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Flashcards in Inherited Diseases Deck (44):
1

What are the 2 mutations possible responsible for ADPKD?

PKD1

PKD2

2

What chromosome?

PKD 1

Chromosome 16

3

What chromosome?

PKD 2

Chromosome 4

4

Which gene is responsible for familial adenomatous polyosis?

APC gene

5

What chromosome?

APC gene

Chromosome 5

6

Inheritance pattern of familial hypercholesterolemia?

AD

7

Inheritance pattern of hereditary spherocytosis?

AD

8

The trinucleotide repeat for huntington disease is associated with which chromosome?

Chromosome 4

9

What chromosome is marfan syndrome FBN1 associated with?

Chromosome 15

10

What is the interitance pattern of MEN syndromes?

AD

11

What chromosome is NF1 gene on?

Chromosome 17

12

What chromosome is NF2 gene on?

Chromosome 22

13

What chromosome is the VHL gene on?

Chromosome 3

14

What is the inheritance pattern of VHL?

AD

15

What is the inheritance pattern of NF2 and NF 1?

AD

16

What chromosome is the CFTR gene on?

Chromosome 7

17

What is the mutation in CFTR gene/

Phe 508

18

What does CFTR encode?

ATP gated Cl- channel (that secretes Cl- in lungs and GI tract and reabsorbes Cl- in sweat glands)

19

What does the CFTR mutation result in?

Misfolded protein leading to the protein being retained in the RER and NOT transported to the cell membrane

20

What is the inheritance of lesch- Nyhan syndrome?

X linked

21

What is the inheritance of cystic fibrosis?

AR

22

Why is the mucus so thick in Cystic fibrosis?

Because increased intracellular Cl- leads to increased Na reab--> increased H2O reabsorption--> abnormally thick mucus

23

Inheritance pattern of Kartagener syndrome?

AR

24

Inheritance pattern of albinism?

AR

25

What is the inheritance pattern of bruton agammaglobinulemia?

X lined recessive

26

What is the inheritance pattern of hemophelia A/ B?

X liked recessive

27

What is the inheritance pattern of ornithine transcarbamylase deficiency?

x linked recessive

28

What is the inheritance pattern of DMD and BMD?

X linked recessive

29

What is the type of mutation seen in DMD?

Frameshift mutation leading to a truncated dystrophin protein

30

What type of mutation is seen in BMD?

non-frameshift insertion--> partially functional

31

"X linked defect affecting the methylation and expression of FMR1 gene"

Fragile X Syndrome

32

What are the symptoms of Fragile X?

eXtra large testes, jaw and ears

33

What is the mutation in fragile x?

Trinucleotide repeat disorder

34

CGG repeat?

Fragile x

35

GAA

friedreich ataxia

36

CAG

huntinton

37

CTG

myotonic dystrophy

38

Trisomy 18

Edwards syndrome

39

Rocker bottom feet, micrognathia, low set ears?

Edwards syndrome

40

Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Edwards Syndrome?

All decreased

41

Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Down Syndrome?

increased beta hCG and inhibin A

decreased aFP and estriol

42

Trisomy 13?

Patau syndrome

43

"severe intellectual disability, rocker bottom feet, cleft lip and palate, holoprosencephaly, death within 1 year"

patau syndrome

44

What chromosome is DiGeorge Syndrome associated with?

Chromosome 22

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