Deck 52: Diseases of Genetic Origin

Question 1

Which disease would benefit from enzyme replacement therapy?
1)Gaucher disease
2)Fabry disease
3)Pompe disease
4)mucopolysaccharidosis type II

A)1, 2, 3, 4
B)1, 2, 3
C)1, 3, 4
D)2, 3, 4

Answer 1

1, 2, 3, 4

Question 2

Given the following information, identify which disease is being described.
Gene - GBA
Protein - acid beta glucosidase
Gene locus - 1q21
Inheritance and incidence - autosomal recessive; 1 in 100,000 among general population; 1 in 900 among Ashkenazi Jews
Clinical features - Type 1: Hepatosplenomegaly, bone lesions, hematological abnormalities,
Survival into adulthood.Type 2: Severe neuronopathic disease, hepatosplenomegaly, death in early childhood

A)Gaucher disease
B)cystic fibrosis
C)sickle cell disease
D)phenylketonuria

Answer 2

Gaucher disease

Question 3

Individuals with what trisomy are severely affected and most often do not survive?
1)trisomy 16
2)trisomy 13
3)trisomy 18
4)trisomy 21

A)1, 4
B)2, 3
C)3, 4
D)1, 3

Answer 3

2, 3

Question 4

Which of the following statements is true of Klinefelter syndrome?
1)Its chromosome abnormality is 45,X.
2)It has an incidence of 1 in 500 males.
3)It has an incidence of 1 in 500 females.
4)It has clinical features that involve learning difficulties and tall stature.

A)1, 3, 4
B)2, 4
C)1, 3
D)1, 2, 4

Question 5

Sickle cell disease is the prototypical ______ single gene disorder.It occurs with an incidence of approximately 1 in 600 ______.

A)autosomal recessive, African Americans
B)autosomal recessive, Caucasian Americans
C)autosomal dominant, African Americans
D)autosomal dominant, Caucasian Americans

Question 6

A patient with a1-antitrypsin deficiency would receive what treatment with the hopes of being cured?

A)liver transplant
B)bone marrow transplant
C)hematopoietic stem cell transplant
D)gene replacement therapy

Question 7

Tay-Sachs Disease is:

A)autosomal recessive
B)autosomal dominant
C)X-linked recessive
D)X-linked dominant

Question 8

What chromosome abnormality occurs in Turner Syndrome?

A)Trisomy 18
B)Trisomy 21
C)45,X
D)47,XXY

Question 9

Identify which statement is not true regarding predictive genetic testing.

A)An abnormal presymptomatic genetic test result indicates that a person will develop the disease at some point in their lifetime.
B)An abnormal presymptomatic genetic test result will specify when a person's symptoms of a disease will appear.
C)An abnormal predisposition genetic test result indicates that an individual has an increased risk of developing a disease.
D)None of the above are true.

Question 10

Which of the following is not true of autosomal dominant inheritance?

A)The disease occurs with equal frequency in males and females.
B)The disease can occur in the absence of family history.
C)An individual must inherit two copies of a mutant allele in a particular locus, one from each parent, to be affected.
D)All of the above

Question 11

Which of the following is considered a transversion?

A)the substitution of a pyrimidine for a purine
B)the substitution of a purine for a purine
C)the substitution of a pyrimidine for a pyrimidine
D)all of the above

Question 12

Which of the following is a type of prenatal genetic test?

A)chorionic villus sampling
B)percutaneous umbilical blood sampling
C)amniocentesis
D)all of the above

Question 13

Which of the following is true of structural chromosomal abnormalities?
1)They are usually the result of aneuploidy.
2)They include translocations, deletions, inversions, and duplications.
3)They may be balanced or unbalanced.
4)They usually result from DNA damage due to exposure to radiation and toxic chemicals.

A)1, 2, 3, 4
B)1, 2, 3
C)2, 3, 4
D)1, 3, 4

Question 14

Citrullinemia, homocystinuria, phenylketonuria, and maple syrup urine disease are all what type of disorders that are commonly included in newborn screening programs?

A)endocrinopathies
B)amino acid disorders
C)fatty acid oxidation disorders
D)carbohydrate disorders

Question 15

Which factors alter the predicted patterns of Mendelian inheritance?
1)penetrance
2)expressivity
3)pleiotropy
4)phenocopy

A)1, 2, 3, 4
B)1, 2, 3
C)1, 3, 4
D)2, 3, 4

Question 16

Which disease listed below has the following characteristics?
Chromosome abnormality - Trisomy 13
Incidence - 1 in 5,000
Clinical features - profound mental retardation, holoprosencephaly, cleft lip and palate, polydactyly, seizures, hearing loss, omphalocele, congenital heart defects and renal anomalies

A)Edwards syndrome
B)Patau syndrome
C)Turner Syndrome
D)Klinefelter Syndrome

Question 17

Which of the following statements are true of genes?
1)Genes usually exist in multiple variant forms.
2)Genes consist of intervening, noncoding DNA sequences.
3)Genes consist of intervening, coding sequences.
4)Only 1% of the human genome is noncoding DNA that is used to make mRNAs and proteins.

A)1, 2, 3, 4
B)1, 2, 3
C)1, 3, 4
D)2, 3, 4

Question 18

Which of the following is true of mapping and identifying genes involved in human disease?

A)In functional cloning, gene mapping precedes the identification of the disease gene.
B)In positional cloning, physiological function studies precede gene identification and chromosomal mapping.
C)Positional cloning requires the analysis of samples collected from multiple families in which the genetic disorder segregates.
D)All of the above