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genetics > Review PP > Flashcards

Review PP Flashcards

1
Q

Albinism - inheritance

A

Autosomal Recessive

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2
Q

Albinism - defect

A

tyrosinase gene mutations lead to lack of melanin

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3
Q

Albinism - phenotype

A

lack of coloring in skin, hair, etc

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4
Q

Albinism - inheritance risk

A

25% affecteds

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5
Q

Albinism - unique features (problems w/) (increased risk of)

A

problems with eyesight High risk of skin cancer

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6
Q

Tay Sachs - Inheritance

A

autosomal recessive

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7
Q

Tay Sachs - defect

A

hexosaminidase A deficiency

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8
Q

Tay Sachs - phenotype

A

lysosomal storage disorder seizures, blindness, death

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9
Q

Tay Sachs - inheritance risk

A

25% affecteds

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10
Q

Tay Sachs - unique features (incidence)

A

carrier incidence amoung jews and Cajuns is 1 in 27

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11
Q

Hereditary Hemochromatosis - Inheritance and onset

A

Autosomal Recessive (adult onset)

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12
Q

Hereditary Hemochromatosis - defect

A

defect leads to iron overloads

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13
Q

Hereditary Hemochromatosis - phenotype

A

liver cirrhosis, diabetes, heart disease, bronze skin

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14
Q

Hereditary Hemochromatosis - inheritance risk

A

25% affecteds

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15
Q

Hereditary Hemochromatosis - unique features (treatment)

A

treat with phlebotomy

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16
Q

PKU - inheritance

A

autosomal recessive

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17
Q

PKU - defect

A

Phenylalanine hydroxylase (Phe –> Tyrosine)

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18
Q

PKU- Phenotype

A

mental retardation

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19
Q

PKU - inheritance risk

A

25% affecteds

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20
Q

PKU - unique features (treatment)

A

dietary restriction of phe intake prevents mental retardation; maternal PKU – must put women who want to get pregnant on Phe restricted diet before preganancy

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21
Q

Sickle Cell Anemia - inheritance

A

autosomal recessive

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22
Q

Sickle Cell Anemia - defect

A

point mutation in hemoglobin gene

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23
Q

Sickle Cell Anemia - phenotype

A

sickle- shaped cells bone pain fever fatigue infections

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24
Q

Sickle Cell Anemia - inheritance risk (sickle cell trait)

A

1 in 12 AA is a herteroxygote (trait)

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25
Q

Sickle Cell Anemia - unique features (mutation)

A

mutation is same in all pts

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26
Q

Cystic fibrosis - inheritance

A

autosomal recessive

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27
Q

Cystic fibrosis - defect

A

up to 900 different mutations in CFTR

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28
Q

Cystic fibrosis - phenotype

A

lung fibrosis thick mucus pancreatic insufficiency

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29
Q

Cystic fibrosis - inheritance risk

A

25% affecteds 1:25 carrier frequency

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30
Q

Cystic fibrosis - unique features (phenotype)

A

some phenotypic variability with the same mutation

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31
Q

Familial hypercholesterolemia - inheritance

A

autosomal dominant

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32
Q

Familial hypercholesterolemia - defect

A

LDL receptor

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33
Q

Familial hypercholesterolemia - phenotype

A

very high cholesterol levels and heart disease

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34
Q

Familial hypercholesterolemia - inheritance risk

A

50%, however, herterozygotes have heart diease in their 20s

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35
Q

Familial hypercholesterolemia - unique features (age of onset, clinical sign)

A

homozygotes have heart attacks by age 2 have xanthomas

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36
Q

Achondroplasia - inheritance

A

autosomal dominant

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37
Q

Achondroplasia - defect

A

fibroblast growth factor receptor 3

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38
Q

Achondroplasia - Phenotype

A

dwarfism; short arms/ legs

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39
Q

Achondroplasia - inheritance risk

A

50% affecteds (1 dwarf parent)

40
Q

Achondroplasia - unique features

A

can be the result of new (de novo) mutation in parents of normal stature

41
Q

Marfan’s syndrome - inheritance

A

autosomal dominant

42
Q

Marfan’s syndrome - defect

A

fibrillin 1 mutation

43
Q

Marfan’s syndrome - phenotype

A

hyperextensible joints arachnodactylyl tall with long legs and arms

44
Q

Marfan’s syndrome - inheritance risk

A

50% affecteds

45
Q

Marfan’s syndrome - unique features (increased risk of)

A

high risk of aortic aneurism

46
Q

Adult Polycystic Kidney Disease - inheritance

A

autosomal dominant

47
Q

Adult Polycystic Kidney Disease - defect

A

affects developmental genes for nephrons of kidney

48
Q

Adult Polycystic Kidney Disease - phenotype

A

kidney cysts hepatic cysts hypertension

49
Q

Adult Polycystic Kidney Disease - inheritance risk

A

50% affecteds

50
Q

Adult Polycystic Kidney Disease - unique features

A

adult onset

51
Q

Neurofibromatosis 1 - inheritance

A

autosomal dominant

52
Q

Neurofibromatosis 1 - defect

A

mutation in neurofibromin

53
Q

Neurofibromatosis 1 - phenotype

A

café au lait spots lisch nodules neurofibromas axillary freckling

54
Q

Neurofibromatosis 1 - inheritance risk

A

50% affecteds

55
Q

Neurofibromatosis 1 - unique features (phenotype in a family)

A

variable expression of the same mutation within the same family, likely due to modifier genes

56
Q

Osteogenesis Imperfecta - inheritance

A

autosomal dominant

57
Q

Osteogenesis Imperfecta -defect

A

type 1 procollagen defects

58
Q

Osteogenesis Imperfecta -phenotype

A

brittle bone disease blue sclera

59
Q

Osteogenesis Imperfecta - inheritance risk

A

50% affecteds

60
Q

Osteogenesis Imperfecta - unique features (phenotype)

A

blue sclera

61
Q

Hypophosphatemic rickets - inheritance

A

X linked dominant

62
Q

Hypophosphatemic rickets - defect

A

phosphate uptake in kidneys

63
Q

Hypophosphatemic rickets - phenotype

A

rickets; soft bones

64
Q

Hypophosphatemic rickets - inheritance risk

A

passed from affected female to 1/2 her daughters and ALL her sons

65
Q

Hypophosphatemic rickets - unique features (inheritance pattern)

A

passed from affected mother to 50% of her daughters and 100% of her sons

66
Q

Duchenne Muscular Dystrophy - inheritance

A

X linked recessive

67
Q

Duchenne Muscular Dystrophy - defect

A

mutations in Dystrophin gene

68
Q

Duchenne Muscular Dystrophy - phenotype

A

muscle degeneration and weakness

69
Q

Duchenne Muscular Dystrophy - inheritance risk

A

50% affected males from carrier moms

70
Q

Duchenne Muscular Dystrophy - unique features (dystrophin gene characteristics)

A

dystrophin is largest gene known ~1% of the entire X chromosome

71
Q

G-6PD deficiency - inheritance

A

X linked recessive

72
Q

G-6PD deficiency - defect

A

lack of glucose 6 phosphate dehydrogenase

73
Q

G-6PD Deficiency - phenotype

A

Normal until “triggering” event (certian drugs or foods), then hemolytic anemia occurs

74
Q

G-6PD deficiency - Inheritance risk

A

50% in males

75
Q

G- 6PD deficiency - unique features (mutation incidence)

A

approx. 1 in 10 African American Men have a mutation

76
Q

Hemophilia - inheritance

A

X linked recessive

77
Q

Hemophilia - defect

A

defect in clotting factor VIII - hemophilia A

Defect in clotting factor IX - hemophilia B

78
Q

Hemophilia A defect

A

Defect in clotting factor VIII

79
Q

Defect in Hemophilia B

A

Defect in clotting factor IX

80
Q

Hemophilia - Phenotype

A

bleeding into joints (hemathroses) and hematomas

81
Q

Hemophilia - inheritance risk

A

50% among males

82
Q

Hemophilia - unique features (one of the first mutations in)

A

Russian Royal Family affected

83
Q

Fragile X - inheritance

A

X linked, due to trineucleotide expansion

84
Q

Fragile X - Defect

A

CGG expansion in 5’ UTR of FMR gene

85
Q

Fragile X - phenotype

A

mental retardation, long face, large ears

86
Q

Fragile X - inheritance risk

A

50% affected males from carrier moms

87
Q

Fragile X - unique fatures

A

The most common heritable form of moderate mental retardation!!!!!

88
Q

Huntington Disease - inheritance

A

Autosomal dominant, due to trinucleotide repeat expansion

89
Q

Huntington Disease - defect

A

CAG expansion

90
Q

Huntington Disease - phenotype

A

dementia, memory loss, choreic movements

91
Q

Huntington Disease - inheritance risk

A

50% affecteds

92
Q

Huntington Disease - unique features (Huntingtons disease shows….?)

A

anticipiation - trinucleotide repeat can expand with each generation, causing more severe disease and earlier onset

93
Q

CF - test

A

Chloride sweat test (high)

94
Q

PKU - test

A

Blood Phenylalanine levles (high)

95
Q

Tay Sachs - test

A

WBC hexosaminidase A levles (LOW)

96
Q

Down Syndrome - levels

A

cytogenetic analysis

genetics (2 decks)

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