Unit 4 Diseases Flashcards

(68 cards)

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
B-thalassemia gene
B-globin
25
B-thalassemia hallmark
Hemoglobinopathy
26
Tay Sachs inheritance
Autosomal recessive
27
Tay Sachs gene
HexA
28
Tay Sachs hallmark
Lysosomal storage disorder
29
Fragile X inheritance
X-linked dominant
30
Fragile X gene
FMR1
31
Fragile X hallmark
mental retardation
32
Rett syndrome inheritance
X-linked dominant
33
Rett syndrome gene
MeCP2
34
Hemophilia A inheritance
X-linked recessive
35
Hemophilia A gene
Factor VIII
36
Lesch-Nyan syndrome inheritance
X-linked recessive
37
Lesch-Nyan gene
HGPRT
38
Lesch-Nyan hallmark
Self-mutilation
39
Duchenne muscular dystrophy inheritance
X-linked recessive
40
Duchenne muscular dystrophy gene
Dystrophin
41
Becker muscular dystrophy inheritance
X-linked recessive
42
Becker muscular dystrophy gene
Dystrophin
43
Red green color blindness inheritance
X-linked recessive
44
G6PD deficiency inheritance
X-linked recessive
45
OTC deficiency inheritance
X-linked recessive
46
CPEO inheritance
Mitochondrial
47
LHON inheritance
Mitochondrial
48
MELAS inheritance
Mitochondrial
49
MERRF inheritance
mitochondrial
50
Kearns-Sayre syndrome inheritance
Mitochondrial
51
Leigh syndrome inheritance
Mitochondrial
52
Pearson syndrome inheritance
Mitochondrial
53
HPV pathology
decreases p53, increases E2F
54
Li-Fraumeni Syndrome
hereditary defect in TP53
55
HNPCC or Lynch Syndrome inheritance
Autosomal dominant
56
Lynch Syndrome mutations
MSH2 & MLH1 involved in DNA repair
57
BRCA is a ?
tumor suppressor
58
G1 (early) cyclin and CDK
Cyclin D-CDK4/6
59
G1(late) cyclin and cdk
Cyclin E-CDK2
60
G1/S cyclin and cdk
Cyclin A-CDK2
61
S/G1 cyclin and CDK
Cyclin A-CDK1
62
M cyclin and CDK
Cyclin B-CDK1
63
G2-M and M phase checkpoints require which cyclin-CDK
Cyclin B-CDK1
64
G2-M checkpoint requires ___ and activation of what?
DNA replication completed, activation of CDK1
65
M phase requires?
degradation of CDK1 activity
66
p16
inhibits CDK4 and CDK 6
67
p21
inhibits all CDKs except 4 and 6