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Step 1 Review > Inherited Diseases > Flashcards

Inherited Diseases Flashcards

1
Q

What are the 2 mutations possible responsible for ADPKD?

A

PKD1

PKD2

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2
Q

What chromosome?

PKD 1

A

Chromosome 16

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3
Q

What chromosome?

PKD 2

A

Chromosome 4

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4
Q

Which gene is responsible for familial adenomatous polyosis?

A

APC gene

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5
Q

What chromosome?

APC gene

A

Chromosome 5

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6
Q

Inheritance pattern of familial hypercholesterolemia?

A

AD

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7
Q

Inheritance pattern of hereditary spherocytosis?

A

AD

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8
Q

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

A

Chromosome 4

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9
Q

What chromosome is marfan syndrome FBN1 associated with?

A

Chromosome 15

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10
Q

What is the interitance pattern of MEN syndromes?

A

AD

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11
Q

What chromosome is NF1 gene on?

A

Chromosome 17

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12
Q

What chromosome is NF2 gene on?

A

Chromosome 22

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13
Q

What chromosome is the VHL gene on?

A

Chromosome 3

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14
Q

What is the inheritance pattern of VHL?

A

AD

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15
Q

What is the inheritance pattern of NF2 and NF 1?

A

AD

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16
Q

What chromosome is the CFTR gene on?

A

Chromosome 7

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17
Q

What is the mutation in CFTR gene/

A

Phe 508

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18
Q

What does CFTR encode?

A

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

19
Q

What does the CFTR mutation result in?

A

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

20
Q

What is the inheritance of lesch- Nyhan syndrome?

A

X linked

21
Q

What is the inheritance of cystic fibrosis?

A

AR

22
Q

Why is the mucus so thick in Cystic fibrosis?

A

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

23
Q

Inheritance pattern of Kartagener syndrome?

A

AR

24
Q

Inheritance pattern of albinism?

A

AR

25
Q

What is the inheritance pattern of bruton agammaglobinulemia?

A

X lined recessive

26
Q

What is the inheritance pattern of hemophelia A/ B?

A

X liked recessive

27
Q

What is the inheritance pattern of ornithine transcarbamylase deficiency?

A

x linked recessive

28
Q

What is the inheritance pattern of DMD and BMD?

A

X linked recessive

29
Q

What is the type of mutation seen in DMD?

A

Frameshift mutation leading to a truncated dystrophin protein

30
Q

What type of mutation is seen in BMD?

A

non-frameshift insertion–> partially functional

31
Q

“X linked defect affecting the methylation and expression of FMR1 gene”

A

Fragile X Syndrome

32
Q

What are the symptoms of Fragile X?

A

eXtra large testes, jaw and ears

33
Q

What is the mutation in fragile x?

A

Trinucleotide repeat disorder

34
Q

CGG repeat?

A

Fragile x

35
Q

GAA

A

friedreich ataxia

36
Q

CAG

A

huntinton

37
Q

CTG

A

myotonic dystrophy

38
Q

Trisomy 18

A

Edwards syndrome

39
Q

Rocker bottom feet, micrognathia, low set ears?

A

Edwards syndrome

40
Q

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

A

All decreased

41
Q

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

A

increased beta hCG and inhibin A

decreased aFP and estriol

42
Q

Trisomy 13?

A

Patau syndrome

43
Q

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

A

patau syndrome

44
Q

What chromosome is DiGeorge Syndrome associated with?

A

Chromosome 22

Step 1 Review (62 decks)

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