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Biochemistry > Unit 4 Diseases > Flashcards

Unit 4 Diseases Flashcards

0
Q

Hemophilia B inheritance

A

autosomal recessive

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1
Q

Hemophilia B gene

A

Factor IX

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2
Q

Huntington disease inheritance

A

Autosomal dominant

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3
Q

Huntington disease gene

A

HD (Huntingtin)

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4
Q

Achondroplasia inheritance

A

Autosomal dominant

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5
Q

Achondroplasia gene affected

A

FGFR3

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6
Q

NF type 1 inheritance

A

autosomal dominant

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7
Q

NF type 1 gene

A

NF1

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8
Q

NF type 1 hallmarks

A

cafe-au-lait spots, neurofibromas

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9
Q

Marfan syndrome inheritance

A

Autosomal dominant

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10
Q

Marfan syndrome gene

A

FBN1

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11
Q

Familial hypercholesterolemia inheritance

A

Autosomal dominant

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12
Q

Familial hypercholesterolemia gene

A

LDL Receptor

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13
Q

Hurler syndrome inheritance

A

autosomal recessive

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14
Q

Hurler syndrome gene

A

a-L-iduronidase

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15
Q

Hurler syndrome hallmark

A

Lysosomal storage disorder

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16
Q

Hereditary hemochromatosis inheritance

A

autosomal recessive

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17
Q

Hereditary hemochromatosis gene

A

HFE

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18
Q

Cystic fibrosis gene

A

CFTR

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19
Q

Sickle cell anemia inheritance

A

autosomal recessive

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20
Q

Sickle cell anemia gene

A

B-globin

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21
Q

Phenylketonuria inheritance

A

Autosomal recessive

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22
Q

Phenylketonuria gene

A

Phenylalanine hydroxylase

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23
Q

B-thalassemia inheritance

A

Autosomal recessive

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24
Q

B-thalassemia gene

A

B-globin

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25
Q

B-thalassemia hallmark

A

Hemoglobinopathy

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26
Q

Tay Sachs inheritance

A

Autosomal recessive

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27
Q

Tay Sachs gene

A

HexA

28
Q

Tay Sachs hallmark

A

Lysosomal storage disorder

29
Q

Fragile X inheritance

A

X-linked dominant

30
Q

Fragile X gene

A

FMR1

31
Q

Fragile X hallmark

A

mental retardation

32
Q

Rett syndrome inheritance

A

X-linked dominant

33
Q

Rett syndrome gene

A

MeCP2

34
Q

Hemophilia A inheritance

A

X-linked recessive

35
Q

Hemophilia A gene

A

Factor VIII

36
Q

Lesch-Nyan syndrome inheritance

A

X-linked recessive

37
Q

Lesch-Nyan gene

A

HGPRT

38
Q

Lesch-Nyan hallmark

A

Self-mutilation

39
Q

Duchenne muscular dystrophy inheritance

A

X-linked recessive

40
Q

Duchenne muscular dystrophy gene

A

Dystrophin

41
Q

Becker muscular dystrophy inheritance

A

X-linked recessive

42
Q

Becker muscular dystrophy gene

A

Dystrophin

43
Q

Red green color blindness inheritance

A

X-linked recessive

44
Q

G6PD deficiency inheritance

A

X-linked recessive

45
Q

OTC deficiency inheritance

A

X-linked recessive

46
Q

CPEO inheritance

A

Mitochondrial

47
Q

LHON inheritance

A

Mitochondrial

48
Q

MELAS inheritance

A

Mitochondrial

49
Q

MERRF inheritance

A

mitochondrial

50
Q

Kearns-Sayre syndrome inheritance

A

Mitochondrial

51
Q

Leigh syndrome inheritance

A

Mitochondrial

52
Q

Pearson syndrome inheritance

A

Mitochondrial

53
Q

HPV pathology

A

decreases p53, increases E2F

54
Q

Li-Fraumeni Syndrome

A

hereditary defect in TP53

55
Q

HNPCC or Lynch Syndrome inheritance

A

Autosomal dominant

56
Q

Lynch Syndrome mutations

A

MSH2 & MLH1 involved in DNA repair

57
Q

BRCA is a ?

A

tumor suppressor

58
Q

G1 (early) cyclin and CDK

A

Cyclin D-CDK4/6

59
Q

G1(late) cyclin and cdk

A

Cyclin E-CDK2

60
Q

G1/S cyclin and cdk

A

Cyclin A-CDK2

61
Q

S/G1 cyclin and CDK

A

Cyclin A-CDK1

62
Q

M cyclin and CDK

A

Cyclin B-CDK1

63
Q

G2-M and M phase checkpoints require which cyclin-CDK

A

Cyclin B-CDK1

64
Q

G2-M checkpoint requires ___ and activation of what?

A

DNA replication completed, activation of CDK1

65
Q

M phase requires?

A

degradation of CDK1 activity

66
Q

p16

A

inhibits CDK4 and CDK 6

67
Q

p21

A

inhibits all CDKs except 4 and 6

Biochemistry (5 decks)

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