Biochem - Genetics (Part 1) Flashcards Preview

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Flashcards in Biochem - Genetics (Part 1) Deck (106)
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1

Approximately what percentage of individuals with von Hippel-Lindau disease will develop bilateral renal cell carcinomas?

50%

2

The vascular tumors of von Hippel-Lindau disease are commonly seen in which parts of the nervous system?

Retina, cerebellum, medulla

3

What is the pathophysiology of von Hippel-Lindau disease?

A tumor suppressor is deleted, leading to constitutive expression of hypoxia-inducible factors and an overabundance of vascular growth factors

4

The defect that leads to von Hippel-Lindau disease is found on chromosome _____.

3 (remember: Von Hippel-Lindau = 3 words for chromosome 3)

5

What is the mode of inheritance of albinism?

Autosomal recessive

6

What is the mode of inheritance of 1 antitrypsin deficiency?

Autosomal recessive

7

What is the mode of inheritance of phenylketonuria?

Autosomal recessive

8

What is the mode of inheritance of the thalassemias?

Autosomal recessive

9

What is the mode of inheritance of sickle cell disease?

Autosomal recessive

10

What is the mode of inheritance of the glycogen storage diseases?

Autosomal recessive

11

What is the mode of inheritance of most mucopolysaccharidoses?

Autosomal recessive

12

Most mucopolysaccharidoses are inherited in a(n) _____-_____ pattern, except for _____ _____.

Autosomal-recessive; Hunter's disease

13

Most sphingolipidoses are inherited in a(n) _____-_____ pattern, except for _____ _____.

Autosomal-recessive, Fabry's disease

14

What is the mode of inheritance of hemochromatosis?

Autosomal recessive

15

What is the pattern of inheritance of cystic fibrosis?

Autosomal recessive

16

Cystic fibrosis results from a defect in which gene? Which chromosome? Which ion channel?

CFTR; 7; chloride

17

Patients with cystic fibrosis characteristically have mucus plugs that disturb the function of which three organs?

The pancreas, the lungs, and the liver

18

Which two pathogens are the most likely to cause recurrent pulmonary infections in a patient with cystic fibrosis?

Pseudomonas species and Staphylococcus aureus

19

Recurrent pulmonary infections in patients with cystic fibrosis result in what pulmonary pathology?

Bronchiectasis

20

An infant with failure to thrive also had meconium ileus as a newborn. What is the most likely diagnosis?

Cystic fibrosis

21

How is cystic fibrosis diagnosed?

High concentrations of chloride ions in the sweat

22

A male patient with cystic fibrosis asks you whether he will be able to have children; what is your response?

Unfortunately, males with cystic fibrosis are infertile due to bilateral absence of the vas deferens

23

A patient with cystic fibrosis is at increased risk for the deficiency of what four vitamins?

Vitamins A, D, E, and K, all of which are fat soluble

24

What is the most common lethal genetic disease among Caucasians?

Cystic fibrosis

25

Treatment with what drug helps to loosen mucous plugs in patients with cystic fibrosis?

N-acetylcysteine

26

How does N-acetylcysteine free up mucous plugs?

It cleaves the disulfide bonds that connect mucous glycoproteins

27

What is the pattern of inheritance of fragile X syndrome?

X-linked recessive (remember: Be Wise, Fool's GOLD Heeds False Hope; Fragile X)

28

What is the pattern of inheritance of Duchenne's muscular dystrophy?

X-linked recessive (remember: Be Wise, Fool's GOLD Heeds False Hope; Duchene)

29

What is the pattern of inheritance of hemophilia A and B?

X-linked recessive (remember: Be Wise, Fool's GOLD Heeds False Hope; Hemophilia A)

30

What is the pattern of inheritance of Fabry's disease?

X-linked recessive (remember: Be Wise, Fool's GOLD Heeds False Hope; Fabry's)