Question 1

Missense mutations in cell growth regulator proteins can result in which of the following diseases?

Accepted Answer

A)  Familial hypercholesteremia 
B)  Muscular dystrophy 
C)  Neurofibromatosis 
D)  Phenylketonuria 
A)  Familial hypercholesteremia 
B)  Muscular dystrophy 
C)  Neurofibromatosis 
D)  Phenylketonuria

Question 2

Genetic analysis of four generations of a family reveals that about 50% of the males in the family are affected by a mutation and about 50% of the females are unaffected carriers of the mutation that affects the males. What type of inheritance pattern is seen in this family?

Accepted Answer

A)  Autosomal-dominant 
B)  Autosomal-recessive 
C)  X-linked recessive 
D)  Y-linked recessive 
A)  Autosomal-dominant 
B)  Autosomal-recessive 
C)  X-linked recessive 
D)  Y-linked recessive

Question 3

A patient is tested for the presence of the factor V Leiden mutation by PCR-RFLP. The mutation forms a recognition site for the MnlI restriction enzyme. Isolated DNA is amplified by PCR, and the resulting amplicons are cut with MnlI and separated by gel electrophoresis. Two bands are seen in the lane loaded with the patient's sample, one at 153 bp and the other at 67 bp. One band (220 bp) is seen in the normal control. Which of the following is the correct interpretation of these results?

Accepted Answer

A)  Normal 
B)  Heterozygous mutation 
C)  Homozygous mutation 
D)  Wrong target and method performed for this disease 
A)  Normal 
B)  Heterozygous mutation 
C)  Homozygous mutation 
D)  Wrong target and method performed for this disease

Question 4

A (F508del) mutation in the CFTRgene is responsible for causing which of the following diseases?

Accepted Answer

A)  Idiopathic congenital central hypoventilation syndrome 
B)  Friedreich's ataxia 
C)  Cystic fibrosis 
D)  Leber's hereditary optic neuropathy 
A)  Idiopathic congenital central hypoventilation syndrome 
B)  Friedreich's ataxia 
C)  Cystic fibrosis 
D)  Leber's hereditary optic neuropathy

Question 5

What defines a congenital disease?

Accepted Answer

A)  Always heritable 
B)  Present at birth 
C)  Limited to blood disorders 
D)  Symptoms delayed until puberty 
A)  Always heritable 
B)  Present at birth 
C)  Limited to blood disorders 
D)  Symptoms delayed until puberty

Missense mutations in cell growth regulator proteins can result in which of the following diseases?

Genetic analysis of four generations of a family reveals that about 50% of the males in the family are affected by a mutation and about 50% of the females are unaffected carriers of the mutation that affects the males. What type of inheritance pattern is seen in this family?

A (F508del) mutation in the CFTRgene is responsible for causing which of the following diseases?

What defines a congenital disease?

DNA

RNA

Proteins

Nucleic Acid Extraction Methods

Resolution and Detection of Nucleic Acids

Analysis and Characterization of Nucleic Acids and Proteins

Nucleic Acid Amplification

Chromosomal Structure and Chromosomal Mutations

Gene Mutations

DNA Sequencing

DNA Polymorphisms and Human Identification

Detection and Identification of Microorganisms

Molecular Oncology

Dna-Based Tissue Typing

Quality Assurance and Quality Control in the Molecular Laboratory

Filters

Exam 13: Molecular Detection of Inherited Diseases

Missense mutations in cell growth regulator proteins can result in which of the following diseases?

Genetic analysis of four generations of a family reveals that about 50% of the males in the family are affected by a mutation and about 50% of the females are unaffected carriers of the mutation that affects the males. What type of inheritance pattern is seen in this family?

A (F508del) mutation in the CFTRgene is responsible for causing which of the following diseases?

What defines a congenital disease?

DNA

RNA

Proteins

Nucleic Acid Extraction Methods

Resolution and Detection of Nucleic Acids

Analysis and Characterization of Nucleic Acids and Proteins

Nucleic Acid Amplification

Chromosomal Structure and Chromosomal Mutations

Gene Mutations

DNA Sequencing

DNA Polymorphisms and Human Identification

Detection and Identification of Microorganisms

Molecular Oncology

Dna-Based Tissue Typing

Quality Assurance and Quality Control in the Molecular Laboratory

Filters