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Flashcards in Review PP Deck (96):
1

Albinism - inheritance

Autosomal Recessive

2

Albinism - defect

tyrosinase gene mutations lead to lack of melanin

3

Albinism - phenotype

lack of coloring in skin, hair, etc

4

Albinism - inheritance risk

25% affecteds

5

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

problems with eyesight High risk of skin cancer

6

Tay Sachs - Inheritance

autosomal recessive

7

Tay Sachs - defect

hexosaminidase A deficiency

8

Tay Sachs - phenotype

lysosomal storage disorder seizures, blindness, death

9

Tay Sachs - inheritance risk

25% affecteds

10

Tay Sachs - unique features (incidence)

carrier incidence amoung jews and Cajuns is 1 in 27

11

Hereditary Hemochromatosis - Inheritance and onset

Autosomal Recessive (adult onset)

12

Hereditary Hemochromatosis - defect

defect leads to iron overloads

13

Hereditary Hemochromatosis - phenotype

liver cirrhosis, diabetes, heart disease, bronze skin

14

Hereditary Hemochromatosis - inheritance risk

25% affecteds

15

Hereditary Hemochromatosis - unique features (treatment)

treat with phlebotomy

16

PKU - inheritance

autosomal recessive

17

PKU - defect

Phenylalanine hydroxylase (Phe --> Tyrosine)

18

PKU- Phenotype

mental retardation

19

PKU - inheritance risk

25% affecteds

20

PKU - unique features (treatment)

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

21

Sickle Cell Anemia - inheritance

autosomal recessive

22

Sickle Cell Anemia - defect

point mutation in hemoglobin gene

23

Sickle Cell Anemia - phenotype

sickle- shaped cells bone pain fever fatigue infections

24

Sickle Cell Anemia - inheritance risk (sickle cell trait)

1 in 12 AA is a herteroxygote (trait)

25

Sickle Cell Anemia - unique features (mutation)

mutation is same in all pts

26

Cystic fibrosis - inheritance

autosomal recessive

27

Cystic fibrosis - defect

up to 900 different mutations in CFTR

28

Cystic fibrosis - phenotype

lung fibrosis thick mucus pancreatic insufficiency

29

Cystic fibrosis - inheritance risk

25% affecteds 1:25 carrier frequency

30

Cystic fibrosis - unique features (phenotype)

some phenotypic variability with the same mutation

31

Familial hypercholesterolemia - inheritance

autosomal dominant

32

Familial hypercholesterolemia - defect

LDL receptor

33

Familial hypercholesterolemia - phenotype

very high cholesterol levels and heart disease

34

Familial hypercholesterolemia - inheritance risk

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

35

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

homozygotes have heart attacks by age 2 have xanthomas

36

Achondroplasia - inheritance

autosomal dominant

37

Achondroplasia - defect

fibroblast growth factor receptor 3

38

Achondroplasia - Phenotype

dwarfism; short arms/ legs

39

Achondroplasia - inheritance risk

50% affecteds (1 dwarf parent)

40

Achondroplasia - unique features

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

41

Marfan's syndrome - inheritance

autosomal dominant

42

Marfan's syndrome - defect

fibrillin 1 mutation

43

Marfan's syndrome - phenotype

hyperextensible joints arachnodactylyl tall with long legs and arms

44

Marfan's syndrome - inheritance risk

50% affecteds

45

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

high risk of aortic aneurism

46

Adult Polycystic Kidney Disease - inheritance

autosomal dominant

47

Adult Polycystic Kidney Disease - defect

affects developmental genes for nephrons of kidney

48

Adult Polycystic Kidney Disease - phenotype

kidney cysts hepatic cysts hypertension

49

Adult Polycystic Kidney Disease - inheritance risk

50% affecteds

50

Adult Polycystic Kidney Disease - unique features

adult onset

51

Neurofibromatosis 1 - inheritance

autosomal dominant

52

Neurofibromatosis 1 - defect

mutation in neurofibromin

53

Neurofibromatosis 1 - phenotype

café au lait spots lisch nodules neurofibromas axillary freckling

54

Neurofibromatosis 1 - inheritance risk

50% affecteds

55

Neurofibromatosis 1 - unique features (phenotype in a family)

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

56

Osteogenesis Imperfecta - inheritance

autosomal dominant

57

Osteogenesis Imperfecta -defect

type 1 procollagen defects

58

Osteogenesis Imperfecta -phenotype

brittle bone disease blue sclera

59

Osteogenesis Imperfecta - inheritance risk

50% affecteds

60

Osteogenesis Imperfecta - unique features (phenotype)

blue sclera

61

Hypophosphatemic rickets - inheritance

X linked dominant

62

Hypophosphatemic rickets - defect

phosphate uptake in kidneys

63

Hypophosphatemic rickets - phenotype

rickets; soft bones

64

Hypophosphatemic rickets - inheritance risk

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

65

Hypophosphatemic rickets - unique features (inheritance pattern)

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

66

Duchenne Muscular Dystrophy - inheritance

X linked recessive

67

Duchenne Muscular Dystrophy - defect

mutations in Dystrophin gene

68

Duchenne Muscular Dystrophy - phenotype

muscle degeneration and weakness

69

Duchenne Muscular Dystrophy - inheritance risk

50% affected males from carrier moms

70

Duchenne Muscular Dystrophy - unique features (dystrophin gene characteristics)

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

71

G-6PD deficiency - inheritance

X linked recessive

72

G-6PD deficiency - defect

lack of glucose 6 phosphate dehydrogenase

A image thumb
73

G-6PD Deficiency - phenotype

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

74

G-6PD deficiency - Inheritance risk

50% in males

75

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

approx. 1 in 10 African American Men have a mutation

76

Hemophilia - inheritance

X linked recessive

77

Hemophilia - defect

defect in clotting factor VIII - hemophilia A

Defect in clotting factor IX - hemophilia B

78

Hemophilia A defect

Defect in clotting factor VIII

79

Defect in Hemophilia B

Defect in clotting factor IX

80

Hemophilia - Phenotype

bleeding into joints (hemathroses) and hematomas

81

Hemophilia - inheritance risk

50% among males

82

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

Russian Royal Family affected

83

Fragile X - inheritance

X linked, due to trineucleotide expansion

84

Fragile X - Defect

CGG expansion in 5' UTR of FMR gene

85

Fragile X - phenotype

mental retardation, long face, large ears

86

Fragile X - inheritance risk

50% affected males from carrier moms

87

Fragile X - unique fatures

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

88

Huntington Disease - inheritance

Autosomal dominant, due to trinucleotide repeat expansion

89

Huntington Disease - defect

CAG expansion

90

Huntington Disease - phenotype

dementia, memory loss, choreic movements

91

Huntington Disease - inheritance risk

50% affecteds

92

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

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

93

CF - test

Chloride sweat test (high)

94

PKU - test

Blood Phenylalanine levles (high)

95

Tay Sachs - test

WBC hexosaminidase A levles (LOW)

96

Down Syndrome - levels

cytogenetic analysis