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Biochem > Genetic diseases - modes of inheritance > Flashcards

Genetic diseases - modes of inheritance Flashcards

1
Q

NF1 mutation

A

NF1 gene on Chr 17

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1
Q

Sickle cell anemia mode of inheritance

A

AR

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2
Q

Thalassemia’s mode of inheritance

A

AR

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2
Q

Hemophilia A and B mode of inheritance

A

XR

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3
Q

Hereditary spherocytosis inheritence

A

Autosomal dominant

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4
Q

NF2 inheritance

A

AD

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4
Q

Tuberous sclerosis inheritance

A

AD

Incomplete penetrance

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4
Q

Cystic fibrosis mode of inheritance

A

AR

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4
Q

PKU mode of inheritance

A

AR

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4
Q

G6PD deficiency mode of inheritance

A

XR

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6
Q

Marfan syndrome mjutation

A

Fibrillin-1 gene

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7
Q

Duchenne and Becker muscular dystrophies mode of inheritance

A

XR

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8
Q

Albinism mode of inheritance

A

AR

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9
Q

Elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers, cardiovascular problems

A

Williams syndrome - congenital microdeletion of long arm of Chr 7

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11
Q

MEN 2A and 2B mutation

A

Ret gene mutation

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12
Q

Von hippel lindau disease mutation

A

VHL gene on Chromosome 3

3 words for Chromosome 3

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12
Q

Mutation in CF

A

CFTR gene on Chromosome 7

Phe508 deletion

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13
Q

What chromosome pairs are commonly involved in Robertsonian translocation

A

13, 14, 15, 21, and 22

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14
Q

What does dystrophin do

A

Connects actin to transmembrane proteins alpha and beta dystroglycan that are connected to ECM

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15
Q

Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmia

A

Myotonic Type 1 muscular dystrophy

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16
Q

Wilson disease mode of inheritance

A

AR

17
Q

Sphingolipidoses mode of inheritance

A

AR (except Fabry)

17
Q

Fragile X syndrome mutation

A

X linked defect affecting FMR1 gene expression

Trinucleotide repeat disorder CGG

17
Q

Williams syndrome defect

A

Microdeletion of long arm of Chr 7

18
Q

Numerous benign hamartomas

A

Tuberous sclerosis

19
Q

Mutation in Duchenne

A

Frameshift mutation leading to truncated dystrophin protein

21
Q

ADPKD mutation + location

A

PKD 1 - Chr 16

16 letters in polycystic kidney

23
Q

Kartagener syndrome mode of inheritance

A

AR

24
Q

Velocardiofacial syndrome

A

22q11 deletion

26
Q

Marfan syndrome inheritance

A

AD

28
Q

Huntington disease mutation

A

CAG repeat on chromosome 4

Hunting 4 food

29
Q

Mucopolysaccharidoses mode of inheritance

A

AR (except Hunter)

30
Q

Myotonic type 1 muscular dystrophy mutation

A

CTG trinucleotide repeat expansion in DMPK gene

31
Q

Hemochromatosis mode of inheritance

A

AR

32
Q

infantile polycystic kidney disease mode of inheritance

A

AR

32
Q

Glycogen storage diseases mode of inheritance

A

AR

33
Q

Familial adenomatous polyposis mutation

A

Chr 5 (APC gene)

5 letters in polyp

34
Q

Ornithine transcarbamylase deficiency mode of inheritance

A

XR

35
Q

Ocular albinism mode of inheritance

A

XR

36
Q

Telangiectasias, recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria

A

Hereditary hemorrhagic telangectasia

37
Q

Ragged red fibers

A

Mitochondrial myopathy - transmitted only through mother

39
Q

Wiskott-Aldrich syndrome mode of inheritance

A

XR

40
Q

Bruton agammaglobulinemia mode of inheritance

A

XR

41
Q

Von Hippel Lindau disease inheritance

A

AD

42
Q

Mutation in Becker’s muscular dystrophy

A

X linked point mutation in dystrophin

No frameshift

43
Q

Lesch-Nyhan syndrome mode of inheritance

A

XR

45
Q

Hypophosphatemic rickets mode of inheritance

A

X-linked dominant

46
Q

Fabry disease mode of inheritance

A

XR

47
Q

What is the mutation in Cri du chat

A

Congenital microdeletion of short arm of chromosome 5

48
Q

NF1 inheritance

A

AD

49
Q

What are the trinucleotide repeat expansion diseases

A

Fragile X - CGG

Friedreich ataxia - GAA

Huntington disease - CAG

Myotonic dystrophy - CTG

Biochem (10 decks)

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