Exam 13: Molecular Detection of Inherited Diseases

The mutation del(15)(q11q13) on the paternal chromosome results in a disease that is different from when the same mutation occurs on the maternal chromosome. This difference results from which of the following?

One of the rarest genome mutations, in which the affected infant has a cleft palate, abnormal heart, and developmental delays and usually does not survive beyond 6 months because of trisomy 13, is which of the following syndromes?

Mutation in this gene product that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate can lead to cardiovascular disease and complications in pregnancy.

Li-Fraumeni syndrome, in which affected patients have an increased predisposition to cancer, is caused by a mutation in which of the following genes?

Fertilization where one gamete contains an extra copy of one chromosome will result in what chromosomal abnormality?

Seventeen members of an extended family have a gene mutation. Only two of them have the associated phenotype. What is the term for this observation?

How are transmission patterns determined?

What is indicated by the term CYP2A6?

Mitochondrial mutations primarily affect which of the following tissues?

A deceased family member is indicated in a pedigree by which of the following?

The detection of mitochondrial mutations is complicated by which of the following?

Which of the following syndromes is caused by deletions in mitochondrial genes as detected by Southern blot?

All members of a family carry the same gene polymorphism associated with a certain phenotype. There is a range of phenotypes among the family members. What is the term for this observation?

A patient is tested to determine the number of CGG repeats in the FMR1 gene by Southern blot. The patient is found to have a band that runs above the normal control band. Which of the following is the correct interpretation of these results?

Which of the following is a genetic storage disease in which sulfatides accumulate inside the lysosomes?

A patient presented complaining of slurred speech and difficulty swallowing. The patient's DNA was tested to determine the number of CAG repeats in the Huntington gene by PCR. The patient had 10-29 repeats. This result is interpreted as which of the following?

A pedigree was examined over four generations of a family with an abnormal rate of genetic disease. Scientists observed that males and females alike were affected by the disease but only when their mother was also affected. The children of affected males were all normal. All the children of affected females were affected. Which of the following describes this inheritance pattern?

In a pedigree, an affected female will be indicated by which of the following symbols?

Almost all sex-linked disorders involve which of the following chromosomes?

A patient with abnormally high iron levels is tested to determine if hemochromatosis, specifically the C282Y mutation in the HFE gene, is the cause. The patient's DNA is isolated from whole blood and amplified. Amplicons are then cut with RsaI, and the resulting fragments are separated by gel electrophoresis. There are no RsaI sites in the normal 250 bp PCR product, while the C282Y mutation generates one RsaI site. The lane containing the patient's sample has three bands at 250 bp, 140 bp, and 110 bp. Controls were acceptable. Which of the following is the correct interpretation of these results?