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Genetics > Exam 1 Review > Flashcards

Exam 1 Review Flashcards

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Biology 101 flashcards
1
Q

Achondroplasia inheritance

A

Autosomal dominant

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2
Q

Achondroplasia defect

A

FGFR3

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3
Q

Achondroplasia phenotype

A

Dwarfism

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4
Q

Familial hypercholesterolemia inheritance

A

Autosomal dominant

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5
Q

Familial hypercholesterolemia defect

A

LDL receptor

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6
Q

Familial hypercholeterolemia phenotype

A

High scholesterol and heart disease

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7
Q

Osteogenesis imperfecta inheritance

A

Autosomal dominant

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8
Q

Osteogenesis imperfecta defect

A

Type I procollagen defects
OI type I–tarda–brittle bones
OI type II–congenita–subs bulky side chains

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9
Q

Osteogenesis imperfecta phenotype

A

Brittle bone disease

Blue sclera

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10
Q

Marfan’s syndrome inheritance

A

Autosomal dominant

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11
Q

Marfan’s syndrome defect

A

Fibrillin I mutation

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12
Q

Marfan’s syndrome phenotype

A

Hyperextensible joints, arachnodactyly, tall with long limbs, risk for aortic aneurysm

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13
Q

Neurofibromatosis I inheritance

A

Autosomal dominant

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14
Q

NF I defect

A

Neurofibromin mutation

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15
Q

NF I phenotype

A

Cafe au lait spots, Lisch nodules, neurofibromas, axillary freckling

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16
Q

APCKD inheritance

A

Autosomal dominant

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17
Q

APCKD defect

A

Genes for nephrons

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18
Q

APCKD phenotype

A

Cystic nephrons (<5%)

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19
Q

Huntington’s inheritance

A

Autosomal dominant

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20
Q

Huntington’s defect

A

CAG expansion

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21
Q

Huntington’s phenotype

A

Dementia, memory loss, choreic movement

Destruction of caudate, putamen, internal capsule, coronal radiata

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22
Q

Cystic fibrosis inheritance

A

Autosomal recessive

1/25 people is a carrier

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23
Q

CF defect

A

Up to 900 mutations in CFTR

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24
Q

CF phenotype

A

Lung fibrosis, thick mucus, pancreatic insufficiency

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25
Q

Albinism inheritance

A

Autosomal recessive

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26
Q

Albinism defect

A

Tyrosinase gene mutation–>lack of melanin

27
Q

Albinism phenotype

A

Lack of coloring in skin, hair, etc

28
Q

Sickle cell inheritance

A

Autosomal recessive

29
Q

Sickle cell defect

A

Glu–>Val on Beta 6 chain

30
Q

Sickle cell phenotype

A

Sickle-shaped cells, bone pain, fever, fatigue, infections

31
Q

Thalassemia inheritance

A

Autosomal recessive

32
Q

Thalassemia defect

A

Alpha or beta globin gene

33
Q

Thalassemia phenotype

A

Hepatosplenomegaly and anemia

34
Q

Hereditary hemochromatosis inheritance

A

Autosomal recessive

35
Q

Hereditary hemochromatosis defect

A

Leading to iron overload

36
Q

Hereditary hemochromatosis phenotype

A

Liver cirrhosis, diabetes, heart disease, bronze skin

37
Q

Tay Sachs inheritance

A

Autosomal recessive

38
Q

Tay Sachs defect

A

Hexosaminidase A deficiency

39
Q

Tay Sachs phenotype

A

Lysosomal storage disorder
Seizures
Blindness
Death

40
Q

PKU inheritance

A

Autosomal recessive

41
Q

PKU defect

A

Phenylalanine hydroxylase

42
Q

PKU phenotype

A

Mental retardation

43
Q

Hypophosphatemic rickets inheritance

A

X-linked dominant

44
Q

Hypophosphatemic rickets defect

A

Phosphate uptake in kidneys

45
Q

Hypophosphatemic rickets phenotype

A

Soft bones

46
Q

Rett syndrome inheritance

A

X-linked dominant

47
Q

Rett syndrome defect

A

Neurodevelopment disorder

48
Q

Rett syndrome phenotype

A

Autism affecting only girls–boys don’t survive

Microcephaly, loss of movement and coordination

49
Q

Duchenne muscular dystrophy inheritance

A

X-linked recessive

50
Q

DMD defect

A

Dystrophin gene mutation

51
Q

DMD phenotype

A

Muscle degeneration and weakness

52
Q

Hemophilia inheritance

A

X-linked recessive

53
Q

Hemophilia defect

A

A: defect in VIII
B: defect in IX
C: defect in XI

54
Q

Hemophilia phenotype

A

Bleeding into joints and hematomas

55
Q

G6PD deficiency inheritance

A

X-linked recessive

56
Q

G6PD defect

A

Lack of glucose-6-phosphate dehydrogenase

57
Q

G6PD phenotype

A

Normal until triggered, then hemolytic anemia

58
Q

Fragile X inheritance

A

X-linked dominant

59
Q

Fragile X defect

A

CGG expansion in 5’ UTR of FMR gene

60
Q

Fragile X phenotype

A

Mental retardation, long face, long ears

61
Q

Autosomal dominant risk

A

50%

62
Q

Autosomal recessive risk

A

25%

63
Q

X-linked dominant risk

A

50% of all children

64
Q

X-linked recessive risk

A

50% of sons of carrier mothers

Genetics (3 decks)

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