Deck 21: Population Genetics and Evolution at the Population, Species, and Molecular Levels

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Question
If the frequencies of two alleles in a population are 0.1 and 0.2, what is the chance that an individual randomly chosen from this population is heterozygous for these two alleles?

A) 0.1 + 0.2 = 30%
B) 0.1 * 0.1 = 1%
C) 0.1 * 0.2 = 2%
D) 2 * 0.1 + 0.2 = 60%
E) 2 * 0.1 * 0.2 = 4%
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Question
The Paternity Index (PI) is calculated by dividing by .

A) the probability that the putative father is the real father; the probability that putative father is not the real father
B) the probability that the nonmaternal allele comes from the putative father; the probability that the allele comes from another male in the population
C) the probability that the nonmaternal allele comes from a random male; the probability that the allele comes from another male in the father's population
D) the probability that the childs allele comes from the mother; the probability that the childs allele comes from the father
E) the probability putative father has the child's allele; the probability that the allele comes from another male in the population
Question
First- degree relatives share 50% of their alleles, second- degree relatives share 25% of their alleles, and third- degree relatives share 12.5% of their alleles. Which of the following are third degree relatives?

A) grandparents of an individual
B) parents and their children
C) siblings
D) the aunts or uncles of an individual
E) none of these relationships is third- degree
Question
CODIS markers are chosen that do not occur in coding regions of genes so that they do not disrupt what?

A) promoters
B) intergenic regions
C) gene expression
D) introns
E) codons
Question
For paternity testing to work, which of the following must be true?

A) A child can inherit all of their alleles from their father.
B) The true mother must be known.
C) The father and the mother cannot be identical twins.
D) A child must inherit half of their alleles from their father, the other half come from the mother.
E) The father must be homozygous for any allele that is tested.
Question
Applying the exclusion principle to forensic genetics allows investigators to .

A) exclude any suspects with at least one allele that matches a crime scene
B) include all suspects until guilt is established
C) include all suspects with at least one allele that matches a crime scene
D) exclude any samples not found at the crime scene
E) exclude any suspects whose DNA does not contain an allele that was detected at the crime scene
Question
Genetic markers used for forensic analysis are usually .

A) codominant, where only the recessive allele can be detected
B) dominant, so the presence of one of the two alleles is obvious
C) codominant, where only the dominant allele can be detected
D) recessive, where an individual is positive if they are homozygous
E) codominant, where each allele can be detected separately
Question
Genealogical analysis considers all of the following except?

A) place of birth
B) the extent of shared SNPs between individuals
C) the frequency of alleles in reference populations
D) date of birth
E) the genotype of the tested individual
Question
CODIS markers occur at no greater than 20% for any one allele so each marker has at least 5 alleles in a population, these features help ensure high levels of what?

A) similarity between individuals
B) heritability
C) homozygosity
D) heterozygosity
E) inbreeding
Question
A putative father in paternity case is heterozygous for alleles 20 and 23 of the D21S11 gene. The frequency of allele 20 is 0.1 and the frequency of allele 23 is 0.2. A child is born with a nonmaternal 23 allele at its D21S11 gene. What is the Paternity Index (PI) for this putative father in this case?

A) 0.2 / 0.2 = 1
B) 0.5 / 0.2 = 2.5
C) 1 / 0.2 = 5
D) 0.2 / 0.1 = 2
E) 0.2 * 0.1 = 0.02
Question
Calculate the Combined Paternity Index (CPI) for a father with each of the following PIs: FGA10 = 1.25; D3S135816 = 3.0; TPOX33 = 4.4

A) 1.25 / 3.0 / 4.4 = 0.095 (rounded)
B) 1.25 + 3.0 + 4.4 = 8.65
C) 1.25 * 3.0 * 4.4 = 16.5
D) 1.25 + 3.0 + 4.4/100 = 0.0865
E) (1) 1.25 + (0.5) 3.0 + (1) 4.4 = 7.15
Question
CODIS markers are analyzed _ .

A) using low- resolution electrophoresis
B) by agarose gel electrophoresis
C) by capillary electrophoresis
D) only by the Federal Bureau Investigation (FBI) in certified crime labs
E) by DNA sequencing
Question
What is the statistical principle underlying genetic health risk assessment is called?

A) association
B) the placebo effect
C) case/control
D) determinism
E) causality
Question
A putative father in paternity case is homozygous for allele 23 of the D21S11 gene. The frequency of allele 23 is 0.1. A child is born with a nonmaternal 23 allele at its D21S11 gene. What is the Paternity Index (PI) for this putative father in this case?

A) 1 * 0.1 = 0.1
B) 0.5 / 0.1 = 5
C) 1 / 0.1 = 10
D) 0.1 / 0.1 = 1
E) 0.1 * 0.1 = 0.01
Question
Genetic health risk assessment data can be used to report all of the following except?

A) a parents risk of passing on a disease- associated allele to their children
B) the contribution of the tested alleles to an individuals risk of developing a particular disorder
C) the presence of a disease- associated allele in an individual
D) the frequency of the disease causing allele in the population
E) an individuals exposure to tobacco
Question
Siblings are expected to share % of their alleles with their nieces or nephews.

A) 50%
B) 12.5%
C) 25%
D) 0%
E) 5%
Question
Which of the following could not be used for paternity testing?

A) The child's DNA
B) CODIS markers
C) DNA from the Y- chromosome
D) mitochondrial DNA
E) DNA from hair
Question
To help the Abuelas de Plaza de Mayo (Grandmothers of May Square) Mary- Claire King analyzed
to identify illegally adopted children?

A) mitochondrial DNA
B) DNA from hair
C) DNA from the Y- chromosome
D) CODIS markers
E) paternity testing
Question
Applying the exclusion principle to paternity testing allows investigators to .

A) include all father with at least one allele that matches the child's non- maternal allele
B) exclude any father with at least one allele that does not match the child's non- maternal allele
C) include any father with at least one gene that matches both of the child's alleles
D) exclude all father with at least one allele that matches the child's non- maternal allele
E) include any father with at least one allele that matches both of the child's alleles
Question
If the frequencies of two alleles in a population are 0.1 and 0.2, what is the chance that an individual in this population is homozygous for the allele with the frequency of 0.1?

A) 0.1 * 0.1 = 1%
B) 2 * 0.1 * 0.1 = 2%
C) 0.1 / 0.1 = 1
D) 0.1 + 0.1 = 20%
E) 0.1 + 0.2 = 30%
Question
The discovery of non- coding sequences that are conserved in a wide range of related species suggests that these sequences are important for what?

A) cancer
B) the differences between those related species
C) migration
D) gene regulation
E) cell division
Question
The selection for different alleles affecting the expression of the LCT gene in milk- drinking human populations is an example of?

A) genetic drift
B) hitchhiking
C) common ancestry
D) convergent evolution
E) a selective sweep
Question
Darker skin pigmentation in the ancestors to all humans may have been an adaptation to increase UV- resistance that followed the loss of fir in early hominids. The subsequent loss of pigmentation in at least two human populations may have conferred what advantage in those populations, both of which inhabited areas with less sun exposure?

A) less pigmentation occurred not by selection, but by genetic drift
B) less pigmentation increased energy needs
C) less pigmentation decreased vitamin D synthesis
D) less pigmentation increased vitamin D synthesis
E) less pigmentation increased melanin synthesis
Question
Selection for two different alleles of the hypoxia inducible factor pathway gene (EPAS1), one in Tibetan and the other in Ethiopian populations suggests that these two population share what?

A) selective pressure related to altitude
B) recent common ancestry
C) selective pressure for high gene expression
D) This result suggests that these two populations have nothing in common.
E) no common ancestry
Question
Phylogenetics, the study of evolutionary relationships between organisms predicts that closely related species will share which of the following when compared to species that diverged longer ago?

A) more traits
B) fewer CNVs
C) more DNA sequence
D) all of these statements are assumptions made by phylogenetics
E) none of these statements are assumptions made by phylogenetics
Question
Selection for an allele is expected to have what effect on neutral alleles located on the same chromosome as the selected allele?

A) the neutral sites will not change in frequency in the population, because they are neutral
B) the neutral alleles will become selectively advantageous
C) the neutral sites will increase in frequency in the population
D) there will not be an effect of the selected allele on the neutral allele because alleles of different gene assort independently
E) the neutral sites will decrease in frequency in the population
Question
In which regions of the human genome would you expect to find the most genetic diversity and why?

A) There is no meaningful difference between coding and non- coding regions in terms of genetic diversity.
B) In non- coding regions, because there is selective pressure to alter non- coding sequence.
C) In coding regions, because there is selective pressure to alter amino acid sequence in proteins.
D) In non- coding regions, because there is less selective pressure to maintain non- coding nucleotide sequence.
E) In coding regions, because there is selective pressure to preserve amino acid sequence in proteins.
Question
The presence of similar DNA sequences in sharks, whales and humans, but not in chimpanzees suggests?

A) the DNA codes for a protein
B) that humans are derived from chimpanzees
C) the DNA was gained in elephants, mice and humans, but not chimpanzees .
D) the DNA was lost in chimpanzees
E) none of these hypotheses is supported by this observation
Question
Domestication had what genetic effects on Maize compared to Teosinte?

A) domestication had no genetic effect on Maize
B) domestication increased the number of genes in Maize
C) domestication decreased the number of genes in Maize
D) domestication increased the diversity of Maize
E) domestication decreased the diversity of Maize
Question
Mitochondrial DNA is useful to studies of human history because .

A) it is inherited by both parents, allowing researchers to trace DNA from maternal and paternal origins
B) it is inherited maternally and its sequence changes very little over time
C) it is inherited maternally and its sequence is typically more diverse than nuclear DNA
D) it is inherited paternally
E) it can be used to identify the mother of any human
Question
An allele that is shared by both chimpanzees and humans is said to be .

A) conserved
B) derived
C) ancestral
D) a human- specific gene
E) both conserved and ancestral
Question
The ability to travel rapidly over the Earth is expected to have what effect on human populations?

A) the differentiation between populations with increase
B) the differentiation between populations with decrease
C) human populations will diverge from each other
D) the differentiation between populations with remain steady
E) none of these is expected to result from rapid global travel
Question
On which continent would you expect to find the most human genetic diversity and why?

A) Africa, because it has the oldest human populations, containing alleles that originated long ago and have evolved since.
B) Australia, because it has the oldest human populations.
C) Australia, because it has had a relatively small population size for a relatively short amount of time.
D) Europe, because it had waves of human migration from other parts of the world over the course of many thousands of years.
E) South America because it was one of the last continents to be inhabited by humans.
Question
The loss of genetic diversity at linked neutral loci near a selected site is evidence of what?

A) migration
B) inbreeding
C) genetic drift
D) hitchhiking
E) a haplotype
Question
Human- specific traits are found by comparing humans to what?

A) other humans
B) whales
C) apes
D) Denisovans
E) plants
Question
Mutations affecting can alter the expression of a gene without affecting its coding sequence.

A) coding sequence
B) non- coding sequence
C) exons
D) amino acid sequence
E) mutations in any of these regions could affect a gene's coding sequence
Question
In which of the following continents would you expect the human population to have the fewest alleles derived from Denisovans?

A) Europe
B) Asia
C) South America
D) North America
E) African
Question
On what continent did hominids evolve?

A) South America
B) Africa
C) Asia
D) Europe
E) North America
Question
Portions of the nuclear DNA of many modern humans have similarity to either Denisovan or Neanderthal nuclear DNA, however human mitochondrial DNA (mtDNA) is more similar to Denisovan mtDNA than to Neanderthal mtDNA. Why might this be the case?

A) Modern humans are derived from matings between Denisovan females and human males
B) Modern humans are the common ancestors of both Denisovans and Neanderthals
C) Modern humans are derived from matings between Denisovan males and human females
D) Modern humans are derived from matings between Neanderthal females and human males
E) Modern humans are derived from matings between Denisovan females and Neanderthal males
Question
All of the following are expected to increase genetic diversity in a population except?

A) random mating
B) immigration
C) small population size
D) low selective pressure
E) large population size
Question
Cancer cells can divide indefinitely, which is also known as . <strong>Cancer cells can divide indefinitely, which is also known as .  </strong> A) mitotic arrest B) cellular immortality C) checkpoint function D) resistance to cell death E) cellular differentiation <div style=padding-top: 35px>

A) mitotic arrest
B) cellular immortality
C) checkpoint function
D) resistance to cell death
E) cellular differentiation
Question
The most common cause of cancer formation is _ .

A) inheriting a tumor
B) germline mutations
C) mutation in a single gene
D) accumulation of mutations in a large number of genes
E) recessive alleles
Question
A proto- oncogene has what characteristics?

A) a gene that inhibits cell division and when functioning normally, leads to cancer progression
B) a gene that inhibits apoptosis and when mutated prevents tumor metastasis
C) a gene that regulates the cell cycle in response to hormones
D) a gene that promotes cell division and when functioning normally, leads to cancer progression
E) a gene that promotes cell division and, when mutated, leads to cancer progression
Question
Benign cell masses are known as .

A) malignant tumors
B) apoptosis
C) dysplasia
D) neoplasia
E) metastatic cells
Question
The modern view of cancer describes the cells of a malignant tumor as _ _.

A) normal cells which have been converted to cancer cells by hormones
B) a complex mixture of cells, some malignant and some not
C) genetically identical to the surrounding somatic cells from the same patient
D) abnormal cells confined to a tissue within the patient
E) clonal, each being genetically identical to the other cells in the tumor
Question
Familial cancer often includes the inheritance of _.

A) predisposition to cancer
B) homozygous mutations
C) developmental abnormalities
D) somatic mutations
E) missing chromosomes
Question
Burkitt's lymphoma results from a/an , which causes the misexpression of the protein cMyc.

A) chemotherapy drug
B) point mutation
C) deletion
D) heat shock
E) chromosomal translocation
Question
Cells whose normal function involves preventing cell division are generally characterized as .

A) transcription factors
B) apoptotic genes
C) oncogenes
D) pseudogenes
E) tumor suppressor genes
Question
Cancer susceptibility can run in families due to _ .

A) germline mutation
B) population migration
C) inbreeding
D) sporadic causes
E) somatic mutation
Question
The 'two- hit' hypothesis suggests that .

A) once one allele of a gene is mutated, the other allele must be mutated in order to result in cancer
B) both eyes must contain mutations in the RB1 gene in order to develop retinoblastoma
C) two mutations in the same gene are required for that gene to become oncogenic
D) mutations in one gene promote cancer and mutations to other genes prevent cancer
E) mutations in two genes in the same cell is usually required for cancer progression
Question
Age is the greatest of all risk factors for cancer because _.

A) older people have weaker immune systems
B) tumor suppressors do not work as well in older people
C) germline mutations accumulate with age
D) somatic mutations accumulate with age
E) cell division is rare in older people
Question
Cancer therapy includes which of the following?

A) modified immune cells
B) drug treatments targeting dividing cells
C) radiation targeting cancerous cells
D) drugs targeting specific enzymes/proteins
E) All of these are possible treatment strategies.
Question
Inflammation can aide tumor growth by promoting which of the following?

A) altered metabolism
B) mutagenesis
C) drug resistance
D) genome stability
E) angiogenesis
Question
All of the following are hallmarks of cancer except _ . <strong>All of the following are hallmarks of cancer except _ .  </strong> A) apoptosis B) evasion of growth suppression C) metastasis D) sustained cell production E) angiogenesis <div style=padding-top: 35px>

A) apoptosis
B) evasion of growth suppression
C) metastasis
D) sustained cell production
E) angiogenesis
Question
Sporadic retinoblastoma is often confined to one eye, not both eyes, because homozygous RB1 mutations .

A) affect only one eye
B) are embryonic- lethal
C) are rare
D) prevent cell division
E) require one other mutation, a 'second- hit' to cause cancer
Question
Mutation in the DNA repair checkpoint gene TP53 underlie Li- Fraumeni syndrome which can be diagnosed based on _ _.

A) lack of mutations over many generations
B) many different types of cancer in multiple members of the same family
C) inherited breast cancer
D) recurrence of cancer in the same organ in multiple family members
E) melanoma
Question
Common mutational targets affecting cancer susceptibility include all of the following except .

A) DNA repair genes such as BRCA1
B) the cell cycle
C) mitochondrial function
D) checkpoint genes
E) growth- limiting genes such as APC
Question
Chronic myelogenous leukemia results from a translocation which allows cells to express .

A) a missing chromosome arm
B) a fusion protein
C) a loss- of- function allele
D) too much protein from a normal gene
E) a recessive allele
Question
Most cancers are caused by _ mutations whereas a minority of cancers is caused by mutations.

A) inherited; somatic
B) germline; somatic
C) somatic; random
D) germline; inherited
E) somatic; germline
Question
Which of the following genes is responsible for pausing the cell cycle long enough for radiation- induced DNA damage to be repaired?

A) Both PD- L1 and KRAS
B) KRAS
C) Both PD- L1 and TP53
D) TP53
E) PD- L1
Question
Fetal cell sorting can be performed to collect from which provide information about the genotype of a fetus.

A) metabolic compounds; maternal blood
B) fetal cells; maternal blood
C) metabolic compounds; amniotic fluid
D) fetal cells; a heel stick
E) maternal cells; amniotic fluid
Question
Two parents with a dominant trait have a child who shows the normal phenotype. What is the chance that that child is a carrier of the trait?

A) the chance that an unaffected child is a carrier is less than 50%
B) the chance that an unaffected child is a carrier is 50%
C) the chance that an unaffected child is a carrier is 0%
D) the chance that an unaffected child is a carrier is 75%
E) the chance that an unaffected child is a carrier is 2/3
Question
Testing to determine if someone is heterozygous for a recessive allele is called .

A) carrier testing
B) presymptomatic testing
C) newborn genetic testing
D) karyotyping
E) direct- to- consumer testing
Question
Phenylketonuria (PKU) is detected in newborns when are measured in blood samples.

A) maternal cells
B) single nucleotide polymorphisms (SNPs)
C) chromosome abnormalities
D) metabolites
E) triplet repeat expansions
Question
Inspecting a fetus by ultrasound can reveal which of the following?

A) translocations
B) cystic fibrosis
C) karyotype
D) morphological abnormalities such as cleft lip.
E) Phenylketonuria (PKU)
Question
Genetic testing includes all of the following except .

A) carrier testing
B) presymptomatic testing
C) newborn testing
D) prenatal testing
E) all of these are forms of genetic testing
Question
Polymerase chain reaction (PCR) is used to detect which type of genetic variation?

A) inversions
B) monosomy
C) triplet repeat expansions
D) translocations
E) aneuploidy
Question
The male partner has a rare autosomal- recessive trait and the female partner does not, their first child however has the trait. What do you tell them about the chance that their next child will have the trait?

A) the chance is 2/3
B) the chance is 0%
C) the chance is 75%
D) the chance is 25%
E) the chance is 50%
Question
The child of a normal parent and a parent who develops Huntington disease has a _ chance having a disease allele.

A) 75%
B) 100%
C) 25%
D) 0%
E) 50%
Question
Genetic screening to assess disease risk among individuals in a subpopulation is called _.

A) karyotyping
B) presymptomatic testing
C) in vitro fertilization
D) prenatal screening
E) community- based screening
Question
The recommended uniform screening panel (RUSP) includes tests for conditions that have all of the following characteristics except .

A) treating the condition is not possible
B) the test can be performed with a blood sample
C) the condition must be reliably detected by the test
D) the condition can be treated by medical intervention
E) the condition can be dominant
Question
Non- invasive prenatal genetic screening capable of analyzing the nucleotide sequence of DNA includes which technique(s)?

A) fetal cell sorting
B) amniocentesis
C) preimplantation screening
D) chorionic villus sampling
E) karyotying
Question
Direct- to- consumer testing offers clients the chance to .

A) have genetic testing performed on people without their consent
B) assess their risk of several genetic conditions
C) determine their chances of having a miscarriage
D) have their results evaluated by a medical professional
E) none of these options is available by direct- to- consumer testing
Question
Genetic association between a genetic variant and a trait means .

A) that the genetic variant is not relevant to the trait
B) that the associated genetic variant causes the trait/condition
C) that individuals with an associated allele are certain to have the trait
D) that the trait/condition is caused by a single allele
E) that individuals with an associated allele are more likely than those without the allele to have the trait
Question
The only form of genetic testing that is mandated in the United States is .

A) paternity testing
B) newborn testing
C) community- based testing
D) prenatal testing
E) carrier testing
Question
Pharmacogenetic screening aims to reveal what kind of trait?

A) disorders that cause imbalance of metabolic compound in the blood
B) susceptibility to infection
C) sensitivity to drugs or adverse effects of drugs
D) susceptibility to autoimmune disease
E) susceptibility to disease
Question
Unlike many other genetic disorders, Huntington's disease is caused by a full penetrance disease allele. Full penetrance means what?

A) The longer the allele (more triplet repeats), the more likely the disease is to occur in an individual.
B) Individuals with a disease allele are almost certain to get Huntington's disease.
C) Heterozygotes are just as likely to get Huntington's disease as homozygotes.
D) There are environmental factors beyond age that are also required for an individual to get Huntington's disease.
E) There are other genes that are also required for an individual to get Huntington's disease.
Question
If both parents are carriers of a recessive disease allele, what is the chance that one of their unaffected children is also a carrier?

A) the chance that an unaffected child is a carrier is 50%
B) the chance that an unaffected child is a carrier is 2/3
C) the chance that an unaffected child is a carrier is less than 50%
D) the chance that an unaffected child is a carrier is 0%
E) the chance that an unaffected child is a carrier is 75%
Question
Karyotyping is used to detect which type of genetic variation?

A) metabolic conditions
B) triplet repeat expansions
C) translocations
D) SNPs and translocations
E) single nucleotide polymorphisms (SNPs)
Question
Alzheimer disease is associated with variation in the gene APOE. Thus, individuals with APOE mutations are .

A) less likely to have parents who have/had Alzheimer disease
B) certain to have Alzheimer disease
C) more likely to respond to drugs that treat Alzheimer disease than individuals without APOE mutations
D) more likely to get Alzheimer disease than individuals without APOE mutations
E) less likely to have children who are susceptible to Alzheimer disease
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Deck 21: Population Genetics and Evolution at the Population, Species, and Molecular Levels
1
If the frequencies of two alleles in a population are 0.1 and 0.2, what is the chance that an individual randomly chosen from this population is heterozygous for these two alleles?

A) 0.1 + 0.2 = 30%
B) 0.1 * 0.1 = 1%
C) 0.1 * 0.2 = 2%
D) 2 * 0.1 + 0.2 = 60%
E) 2 * 0.1 * 0.2 = 4%
E
2
The Paternity Index (PI) is calculated by dividing by .

A) the probability that the putative father is the real father; the probability that putative father is not the real father
B) the probability that the nonmaternal allele comes from the putative father; the probability that the allele comes from another male in the population
C) the probability that the nonmaternal allele comes from a random male; the probability that the allele comes from another male in the father's population
D) the probability that the childs allele comes from the mother; the probability that the childs allele comes from the father
E) the probability putative father has the child's allele; the probability that the allele comes from another male in the population
B
3
First- degree relatives share 50% of their alleles, second- degree relatives share 25% of their alleles, and third- degree relatives share 12.5% of their alleles. Which of the following are third degree relatives?

A) grandparents of an individual
B) parents and their children
C) siblings
D) the aunts or uncles of an individual
E) none of these relationships is third- degree
D
4
CODIS markers are chosen that do not occur in coding regions of genes so that they do not disrupt what?

A) promoters
B) intergenic regions
C) gene expression
D) introns
E) codons
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5
For paternity testing to work, which of the following must be true?

A) A child can inherit all of their alleles from their father.
B) The true mother must be known.
C) The father and the mother cannot be identical twins.
D) A child must inherit half of their alleles from their father, the other half come from the mother.
E) The father must be homozygous for any allele that is tested.
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6
Applying the exclusion principle to forensic genetics allows investigators to .

A) exclude any suspects with at least one allele that matches a crime scene
B) include all suspects until guilt is established
C) include all suspects with at least one allele that matches a crime scene
D) exclude any samples not found at the crime scene
E) exclude any suspects whose DNA does not contain an allele that was detected at the crime scene
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7
Genetic markers used for forensic analysis are usually .

A) codominant, where only the recessive allele can be detected
B) dominant, so the presence of one of the two alleles is obvious
C) codominant, where only the dominant allele can be detected
D) recessive, where an individual is positive if they are homozygous
E) codominant, where each allele can be detected separately
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8
Genealogical analysis considers all of the following except?

A) place of birth
B) the extent of shared SNPs between individuals
C) the frequency of alleles in reference populations
D) date of birth
E) the genotype of the tested individual
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9
CODIS markers occur at no greater than 20% for any one allele so each marker has at least 5 alleles in a population, these features help ensure high levels of what?

A) similarity between individuals
B) heritability
C) homozygosity
D) heterozygosity
E) inbreeding
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10
A putative father in paternity case is heterozygous for alleles 20 and 23 of the D21S11 gene. The frequency of allele 20 is 0.1 and the frequency of allele 23 is 0.2. A child is born with a nonmaternal 23 allele at its D21S11 gene. What is the Paternity Index (PI) for this putative father in this case?

A) 0.2 / 0.2 = 1
B) 0.5 / 0.2 = 2.5
C) 1 / 0.2 = 5
D) 0.2 / 0.1 = 2
E) 0.2 * 0.1 = 0.02
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11
Calculate the Combined Paternity Index (CPI) for a father with each of the following PIs: FGA10 = 1.25; D3S135816 = 3.0; TPOX33 = 4.4

A) 1.25 / 3.0 / 4.4 = 0.095 (rounded)
B) 1.25 + 3.0 + 4.4 = 8.65
C) 1.25 * 3.0 * 4.4 = 16.5
D) 1.25 + 3.0 + 4.4/100 = 0.0865
E) (1) 1.25 + (0.5) 3.0 + (1) 4.4 = 7.15
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12
CODIS markers are analyzed _ .

A) using low- resolution electrophoresis
B) by agarose gel electrophoresis
C) by capillary electrophoresis
D) only by the Federal Bureau Investigation (FBI) in certified crime labs
E) by DNA sequencing
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13
What is the statistical principle underlying genetic health risk assessment is called?

A) association
B) the placebo effect
C) case/control
D) determinism
E) causality
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14
A putative father in paternity case is homozygous for allele 23 of the D21S11 gene. The frequency of allele 23 is 0.1. A child is born with a nonmaternal 23 allele at its D21S11 gene. What is the Paternity Index (PI) for this putative father in this case?

A) 1 * 0.1 = 0.1
B) 0.5 / 0.1 = 5
C) 1 / 0.1 = 10
D) 0.1 / 0.1 = 1
E) 0.1 * 0.1 = 0.01
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15
Genetic health risk assessment data can be used to report all of the following except?

A) a parents risk of passing on a disease- associated allele to their children
B) the contribution of the tested alleles to an individuals risk of developing a particular disorder
C) the presence of a disease- associated allele in an individual
D) the frequency of the disease causing allele in the population
E) an individuals exposure to tobacco
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16
Siblings are expected to share % of their alleles with their nieces or nephews.

A) 50%
B) 12.5%
C) 25%
D) 0%
E) 5%
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17
Which of the following could not be used for paternity testing?

A) The child's DNA
B) CODIS markers
C) DNA from the Y- chromosome
D) mitochondrial DNA
E) DNA from hair
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18
To help the Abuelas de Plaza de Mayo (Grandmothers of May Square) Mary- Claire King analyzed
to identify illegally adopted children?

A) mitochondrial DNA
B) DNA from hair
C) DNA from the Y- chromosome
D) CODIS markers
E) paternity testing
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19
Applying the exclusion principle to paternity testing allows investigators to .

A) include all father with at least one allele that matches the child's non- maternal allele
B) exclude any father with at least one allele that does not match the child's non- maternal allele
C) include any father with at least one gene that matches both of the child's alleles
D) exclude all father with at least one allele that matches the child's non- maternal allele
E) include any father with at least one allele that matches both of the child's alleles
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20
If the frequencies of two alleles in a population are 0.1 and 0.2, what is the chance that an individual in this population is homozygous for the allele with the frequency of 0.1?

A) 0.1 * 0.1 = 1%
B) 2 * 0.1 * 0.1 = 2%
C) 0.1 / 0.1 = 1
D) 0.1 + 0.1 = 20%
E) 0.1 + 0.2 = 30%
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21
The discovery of non- coding sequences that are conserved in a wide range of related species suggests that these sequences are important for what?

A) cancer
B) the differences between those related species
C) migration
D) gene regulation
E) cell division
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22
The selection for different alleles affecting the expression of the LCT gene in milk- drinking human populations is an example of?

A) genetic drift
B) hitchhiking
C) common ancestry
D) convergent evolution
E) a selective sweep
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23
Darker skin pigmentation in the ancestors to all humans may have been an adaptation to increase UV- resistance that followed the loss of fir in early hominids. The subsequent loss of pigmentation in at least two human populations may have conferred what advantage in those populations, both of which inhabited areas with less sun exposure?

A) less pigmentation occurred not by selection, but by genetic drift
B) less pigmentation increased energy needs
C) less pigmentation decreased vitamin D synthesis
D) less pigmentation increased vitamin D synthesis
E) less pigmentation increased melanin synthesis
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24
Selection for two different alleles of the hypoxia inducible factor pathway gene (EPAS1), one in Tibetan and the other in Ethiopian populations suggests that these two population share what?

A) selective pressure related to altitude
B) recent common ancestry
C) selective pressure for high gene expression
D) This result suggests that these two populations have nothing in common.
E) no common ancestry
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25
Phylogenetics, the study of evolutionary relationships between organisms predicts that closely related species will share which of the following when compared to species that diverged longer ago?

A) more traits
B) fewer CNVs
C) more DNA sequence
D) all of these statements are assumptions made by phylogenetics
E) none of these statements are assumptions made by phylogenetics
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26
Selection for an allele is expected to have what effect on neutral alleles located on the same chromosome as the selected allele?

A) the neutral sites will not change in frequency in the population, because they are neutral
B) the neutral alleles will become selectively advantageous
C) the neutral sites will increase in frequency in the population
D) there will not be an effect of the selected allele on the neutral allele because alleles of different gene assort independently
E) the neutral sites will decrease in frequency in the population
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27
In which regions of the human genome would you expect to find the most genetic diversity and why?

A) There is no meaningful difference between coding and non- coding regions in terms of genetic diversity.
B) In non- coding regions, because there is selective pressure to alter non- coding sequence.
C) In coding regions, because there is selective pressure to alter amino acid sequence in proteins.
D) In non- coding regions, because there is less selective pressure to maintain non- coding nucleotide sequence.
E) In coding regions, because there is selective pressure to preserve amino acid sequence in proteins.
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28
The presence of similar DNA sequences in sharks, whales and humans, but not in chimpanzees suggests?

A) the DNA codes for a protein
B) that humans are derived from chimpanzees
C) the DNA was gained in elephants, mice and humans, but not chimpanzees .
D) the DNA was lost in chimpanzees
E) none of these hypotheses is supported by this observation
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29
Domestication had what genetic effects on Maize compared to Teosinte?

A) domestication had no genetic effect on Maize
B) domestication increased the number of genes in Maize
C) domestication decreased the number of genes in Maize
D) domestication increased the diversity of Maize
E) domestication decreased the diversity of Maize
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30
Mitochondrial DNA is useful to studies of human history because .

A) it is inherited by both parents, allowing researchers to trace DNA from maternal and paternal origins
B) it is inherited maternally and its sequence changes very little over time
C) it is inherited maternally and its sequence is typically more diverse than nuclear DNA
D) it is inherited paternally
E) it can be used to identify the mother of any human
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31
An allele that is shared by both chimpanzees and humans is said to be .

A) conserved
B) derived
C) ancestral
D) a human- specific gene
E) both conserved and ancestral
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32
The ability to travel rapidly over the Earth is expected to have what effect on human populations?

A) the differentiation between populations with increase
B) the differentiation between populations with decrease
C) human populations will diverge from each other
D) the differentiation between populations with remain steady
E) none of these is expected to result from rapid global travel
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33
On which continent would you expect to find the most human genetic diversity and why?

A) Africa, because it has the oldest human populations, containing alleles that originated long ago and have evolved since.
B) Australia, because it has the oldest human populations.
C) Australia, because it has had a relatively small population size for a relatively short amount of time.
D) Europe, because it had waves of human migration from other parts of the world over the course of many thousands of years.
E) South America because it was one of the last continents to be inhabited by humans.
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34
The loss of genetic diversity at linked neutral loci near a selected site is evidence of what?

A) migration
B) inbreeding
C) genetic drift
D) hitchhiking
E) a haplotype
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35
Human- specific traits are found by comparing humans to what?

A) other humans
B) whales
C) apes
D) Denisovans
E) plants
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36
Mutations affecting can alter the expression of a gene without affecting its coding sequence.

A) coding sequence
B) non- coding sequence
C) exons
D) amino acid sequence
E) mutations in any of these regions could affect a gene's coding sequence
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37
In which of the following continents would you expect the human population to have the fewest alleles derived from Denisovans?

A) Europe
B) Asia
C) South America
D) North America
E) African
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38
On what continent did hominids evolve?

A) South America
B) Africa
C) Asia
D) Europe
E) North America
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39
Portions of the nuclear DNA of many modern humans have similarity to either Denisovan or Neanderthal nuclear DNA, however human mitochondrial DNA (mtDNA) is more similar to Denisovan mtDNA than to Neanderthal mtDNA. Why might this be the case?

A) Modern humans are derived from matings between Denisovan females and human males
B) Modern humans are the common ancestors of both Denisovans and Neanderthals
C) Modern humans are derived from matings between Denisovan males and human females
D) Modern humans are derived from matings between Neanderthal females and human males
E) Modern humans are derived from matings between Denisovan females and Neanderthal males
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40
All of the following are expected to increase genetic diversity in a population except?

A) random mating
B) immigration
C) small population size
D) low selective pressure
E) large population size
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41
Cancer cells can divide indefinitely, which is also known as . <strong>Cancer cells can divide indefinitely, which is also known as .  </strong> A) mitotic arrest B) cellular immortality C) checkpoint function D) resistance to cell death E) cellular differentiation

A) mitotic arrest
B) cellular immortality
C) checkpoint function
D) resistance to cell death
E) cellular differentiation
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42
The most common cause of cancer formation is _ .

A) inheriting a tumor
B) germline mutations
C) mutation in a single gene
D) accumulation of mutations in a large number of genes
E) recessive alleles
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43
A proto- oncogene has what characteristics?

A) a gene that inhibits cell division and when functioning normally, leads to cancer progression
B) a gene that inhibits apoptosis and when mutated prevents tumor metastasis
C) a gene that regulates the cell cycle in response to hormones
D) a gene that promotes cell division and when functioning normally, leads to cancer progression
E) a gene that promotes cell division and, when mutated, leads to cancer progression
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44
Benign cell masses are known as .

A) malignant tumors
B) apoptosis
C) dysplasia
D) neoplasia
E) metastatic cells
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45
The modern view of cancer describes the cells of a malignant tumor as _ _.

A) normal cells which have been converted to cancer cells by hormones
B) a complex mixture of cells, some malignant and some not
C) genetically identical to the surrounding somatic cells from the same patient
D) abnormal cells confined to a tissue within the patient
E) clonal, each being genetically identical to the other cells in the tumor
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46
Familial cancer often includes the inheritance of _.

A) predisposition to cancer
B) homozygous mutations
C) developmental abnormalities
D) somatic mutations
E) missing chromosomes
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47
Burkitt's lymphoma results from a/an , which causes the misexpression of the protein cMyc.

A) chemotherapy drug
B) point mutation
C) deletion
D) heat shock
E) chromosomal translocation
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48
Cells whose normal function involves preventing cell division are generally characterized as .

A) transcription factors
B) apoptotic genes
C) oncogenes
D) pseudogenes
E) tumor suppressor genes
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49
Cancer susceptibility can run in families due to _ .

A) germline mutation
B) population migration
C) inbreeding
D) sporadic causes
E) somatic mutation
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50
The 'two- hit' hypothesis suggests that .

A) once one allele of a gene is mutated, the other allele must be mutated in order to result in cancer
B) both eyes must contain mutations in the RB1 gene in order to develop retinoblastoma
C) two mutations in the same gene are required for that gene to become oncogenic
D) mutations in one gene promote cancer and mutations to other genes prevent cancer
E) mutations in two genes in the same cell is usually required for cancer progression
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51
Age is the greatest of all risk factors for cancer because _.

A) older people have weaker immune systems
B) tumor suppressors do not work as well in older people
C) germline mutations accumulate with age
D) somatic mutations accumulate with age
E) cell division is rare in older people
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52
Cancer therapy includes which of the following?

A) modified immune cells
B) drug treatments targeting dividing cells
C) radiation targeting cancerous cells
D) drugs targeting specific enzymes/proteins
E) All of these are possible treatment strategies.
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53
Inflammation can aide tumor growth by promoting which of the following?

A) altered metabolism
B) mutagenesis
C) drug resistance
D) genome stability
E) angiogenesis
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54
All of the following are hallmarks of cancer except _ . <strong>All of the following are hallmarks of cancer except _ .  </strong> A) apoptosis B) evasion of growth suppression C) metastasis D) sustained cell production E) angiogenesis

A) apoptosis
B) evasion of growth suppression
C) metastasis
D) sustained cell production
E) angiogenesis
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55
Sporadic retinoblastoma is often confined to one eye, not both eyes, because homozygous RB1 mutations .

A) affect only one eye
B) are embryonic- lethal
C) are rare
D) prevent cell division
E) require one other mutation, a 'second- hit' to cause cancer
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56
Mutation in the DNA repair checkpoint gene TP53 underlie Li- Fraumeni syndrome which can be diagnosed based on _ _.

A) lack of mutations over many generations
B) many different types of cancer in multiple members of the same family
C) inherited breast cancer
D) recurrence of cancer in the same organ in multiple family members
E) melanoma
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57
Common mutational targets affecting cancer susceptibility include all of the following except .

A) DNA repair genes such as BRCA1
B) the cell cycle
C) mitochondrial function
D) checkpoint genes
E) growth- limiting genes such as APC
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58
Chronic myelogenous leukemia results from a translocation which allows cells to express .

A) a missing chromosome arm
B) a fusion protein
C) a loss- of- function allele
D) too much protein from a normal gene
E) a recessive allele
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59
Most cancers are caused by _ mutations whereas a minority of cancers is caused by mutations.

A) inherited; somatic
B) germline; somatic
C) somatic; random
D) germline; inherited
E) somatic; germline
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60
Which of the following genes is responsible for pausing the cell cycle long enough for radiation- induced DNA damage to be repaired?

A) Both PD- L1 and KRAS
B) KRAS
C) Both PD- L1 and TP53
D) TP53
E) PD- L1
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61
Fetal cell sorting can be performed to collect from which provide information about the genotype of a fetus.

A) metabolic compounds; maternal blood
B) fetal cells; maternal blood
C) metabolic compounds; amniotic fluid
D) fetal cells; a heel stick
E) maternal cells; amniotic fluid
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62
Two parents with a dominant trait have a child who shows the normal phenotype. What is the chance that that child is a carrier of the trait?

A) the chance that an unaffected child is a carrier is less than 50%
B) the chance that an unaffected child is a carrier is 50%
C) the chance that an unaffected child is a carrier is 0%
D) the chance that an unaffected child is a carrier is 75%
E) the chance that an unaffected child is a carrier is 2/3
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63
Testing to determine if someone is heterozygous for a recessive allele is called .

A) carrier testing
B) presymptomatic testing
C) newborn genetic testing
D) karyotyping
E) direct- to- consumer testing
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64
Phenylketonuria (PKU) is detected in newborns when are measured in blood samples.

A) maternal cells
B) single nucleotide polymorphisms (SNPs)
C) chromosome abnormalities
D) metabolites
E) triplet repeat expansions
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65
Inspecting a fetus by ultrasound can reveal which of the following?

A) translocations
B) cystic fibrosis
C) karyotype
D) morphological abnormalities such as cleft lip.
E) Phenylketonuria (PKU)
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66
Genetic testing includes all of the following except .

A) carrier testing
B) presymptomatic testing
C) newborn testing
D) prenatal testing
E) all of these are forms of genetic testing
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67
Polymerase chain reaction (PCR) is used to detect which type of genetic variation?

A) inversions
B) monosomy
C) triplet repeat expansions
D) translocations
E) aneuploidy
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68
The male partner has a rare autosomal- recessive trait and the female partner does not, their first child however has the trait. What do you tell them about the chance that their next child will have the trait?

A) the chance is 2/3
B) the chance is 0%
C) the chance is 75%
D) the chance is 25%
E) the chance is 50%
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69
The child of a normal parent and a parent who develops Huntington disease has a _ chance having a disease allele.

A) 75%
B) 100%
C) 25%
D) 0%
E) 50%
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70
Genetic screening to assess disease risk among individuals in a subpopulation is called _.

A) karyotyping
B) presymptomatic testing
C) in vitro fertilization
D) prenatal screening
E) community- based screening
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71
The recommended uniform screening panel (RUSP) includes tests for conditions that have all of the following characteristics except .

A) treating the condition is not possible
B) the test can be performed with a blood sample
C) the condition must be reliably detected by the test
D) the condition can be treated by medical intervention
E) the condition can be dominant
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72
Non- invasive prenatal genetic screening capable of analyzing the nucleotide sequence of DNA includes which technique(s)?

A) fetal cell sorting
B) amniocentesis
C) preimplantation screening
D) chorionic villus sampling
E) karyotying
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73
Direct- to- consumer testing offers clients the chance to .

A) have genetic testing performed on people without their consent
B) assess their risk of several genetic conditions
C) determine their chances of having a miscarriage
D) have their results evaluated by a medical professional
E) none of these options is available by direct- to- consumer testing
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74
Genetic association between a genetic variant and a trait means .

A) that the genetic variant is not relevant to the trait
B) that the associated genetic variant causes the trait/condition
C) that individuals with an associated allele are certain to have the trait
D) that the trait/condition is caused by a single allele
E) that individuals with an associated allele are more likely than those without the allele to have the trait
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75
The only form of genetic testing that is mandated in the United States is .

A) paternity testing
B) newborn testing
C) community- based testing
D) prenatal testing
E) carrier testing
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76
Pharmacogenetic screening aims to reveal what kind of trait?

A) disorders that cause imbalance of metabolic compound in the blood
B) susceptibility to infection
C) sensitivity to drugs or adverse effects of drugs
D) susceptibility to autoimmune disease
E) susceptibility to disease
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77
Unlike many other genetic disorders, Huntington's disease is caused by a full penetrance disease allele. Full penetrance means what?

A) The longer the allele (more triplet repeats), the more likely the disease is to occur in an individual.
B) Individuals with a disease allele are almost certain to get Huntington's disease.
C) Heterozygotes are just as likely to get Huntington's disease as homozygotes.
D) There are environmental factors beyond age that are also required for an individual to get Huntington's disease.
E) There are other genes that are also required for an individual to get Huntington's disease.
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78
If both parents are carriers of a recessive disease allele, what is the chance that one of their unaffected children is also a carrier?

A) the chance that an unaffected child is a carrier is 50%
B) the chance that an unaffected child is a carrier is 2/3
C) the chance that an unaffected child is a carrier is less than 50%
D) the chance that an unaffected child is a carrier is 0%
E) the chance that an unaffected child is a carrier is 75%
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79
Karyotyping is used to detect which type of genetic variation?

A) metabolic conditions
B) triplet repeat expansions
C) translocations
D) SNPs and translocations
E) single nucleotide polymorphisms (SNPs)
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80
Alzheimer disease is associated with variation in the gene APOE. Thus, individuals with APOE mutations are .

A) less likely to have parents who have/had Alzheimer disease
B) certain to have Alzheimer disease
C) more likely to respond to drugs that treat Alzheimer disease than individuals without APOE mutations
D) more likely to get Alzheimer disease than individuals without APOE mutations
E) less likely to have children who are susceptible to Alzheimer disease
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