Unit 4 Diseases

Question 0

Hemophilia B inheritance

Answer 0

autosomal recessive

Question 1

Hemophilia B gene

Answer 1

Factor IX

Question 2

Huntington disease inheritance

Answer 2

Autosomal dominant

Question 3

Huntington disease gene

Answer 3

HD (Huntingtin)

Question 4

Achondroplasia inheritance

Answer 4

Autosomal dominant

Question 5

Achondroplasia gene affected

Answer 5

FGFR3

Question 6

NF type 1 inheritance

Answer 6

autosomal dominant

Question 7

NF type 1 gene

Answer 7

NF1

Question 8

NF type 1 hallmarks

Answer 8

cafe-au-lait spots, neurofibromas

Question 9

Marfan syndrome inheritance

Answer 9

Autosomal dominant

Question 10

Marfan syndrome gene

Answer 10

FBN1

Question 11

Familial hypercholesterolemia inheritance

Answer 11

Autosomal dominant

Question 12

Familial hypercholesterolemia gene

Answer 12

LDL Receptor

Question 13

Hurler syndrome inheritance

Answer 13

autosomal recessive

Question 14

Hurler syndrome gene

Answer 14

a-L-iduronidase

Question 15

Hurler syndrome hallmark

Answer 15

Lysosomal storage disorder

Question 16

Hereditary hemochromatosis inheritance

Answer 16

autosomal recessive

Question 17

Hereditary hemochromatosis gene

Answer 17

HFE

Question 18

Cystic fibrosis gene

Answer 18

CFTR

Question 19

Sickle cell anemia inheritance

Answer 19

autosomal recessive

Question 20

Sickle cell anemia gene

Answer 20

B-globin

Question 21

Phenylketonuria inheritance

Answer 21

Autosomal recessive

Question 22

Phenylketonuria gene

Answer 22

Phenylalanine hydroxylase

Question 23

B-thalassemia inheritance

Answer 23

Autosomal recessive

Question 24

B-thalassemia gene

Answer 24

B-globin

Question 25

B-thalassemia hallmark

Answer 25

Hemoglobinopathy

Question 26

Tay Sachs inheritance

Answer 26

Autosomal recessive

Question 27

Tay Sachs gene

Answer 27

HexA

Question 28

Tay Sachs hallmark

Answer 28

Lysosomal storage disorder

Question 29

Fragile X inheritance

Answer 29

X-linked dominant

Question 30

Fragile X gene

Answer 30

FMR1

Question 31

Fragile X hallmark

Answer 31

mental retardation

Question 32

Rett syndrome inheritance

Answer 32

X-linked dominant

Question 33

Rett syndrome gene

Answer 33

MeCP2

Question 34

Hemophilia A inheritance

Answer 34

X-linked recessive

Question 35

Hemophilia A gene

Answer 35

Factor VIII

Question 36

Lesch-Nyan syndrome inheritance

Answer 36

X-linked recessive

Question 37

Lesch-Nyan gene

Answer 37

HGPRT

Question 38

Lesch-Nyan hallmark

Answer 38

Self-mutilation

Question 39

Duchenne muscular dystrophy inheritance

Answer 39

X-linked recessive

Question 40

Duchenne muscular dystrophy gene

Answer 40

Dystrophin

Question 41

Becker muscular dystrophy inheritance

Answer 41

X-linked recessive

Question 42

Becker muscular dystrophy gene

Answer 42

Dystrophin

Question 43

Red green color blindness inheritance

Answer 43

X-linked recessive

Question 44

G6PD deficiency inheritance

Answer 44

X-linked recessive

Question 45

OTC deficiency inheritance

Answer 45

X-linked recessive

Question 46

CPEO inheritance

Answer 46

Mitochondrial

Question 47

LHON inheritance

Answer 47

Mitochondrial

Question 48

MELAS inheritance

Answer 48

Mitochondrial

Question 49

MERRF inheritance

Answer 49

mitochondrial

Question 50

Kearns-Sayre syndrome inheritance

Answer 50

Mitochondrial

Question 51

Leigh syndrome inheritance

Answer 51

Mitochondrial

Question 52

Pearson syndrome inheritance

Answer 52

Mitochondrial

Question 53

HPV pathology

Answer 53

decreases p53, increases E2F

Question 54

Li-Fraumeni Syndrome

Answer 54

hereditary defect in TP53

Question 55

HNPCC or Lynch Syndrome inheritance

Answer 55

Autosomal dominant

Question 56

Lynch Syndrome mutations

Answer 56

MSH2 & MLH1 involved in DNA repair

Question 57

BRCA is a ?

Answer 57

tumor suppressor

Question 58

G1 (early) cyclin and CDK

Answer 58

Cyclin D-CDK4/6

Question 59

G1(late) cyclin and cdk

Answer 59

Cyclin E-CDK2

Question 60

G1/S cyclin and cdk

Answer 60

Cyclin A-CDK2

Question 61

S/G1 cyclin and CDK

Answer 61

Cyclin A-CDK1

Question 62

M cyclin and CDK

Answer 62

Cyclin B-CDK1

Question 63

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

Answer 63

Cyclin B-CDK1

Question 64

G2-M checkpoint requires ___ and activation of what?

Answer 64

DNA replication completed, activation of CDK1

Question 65

M phase requires?

Answer 65

degradation of CDK1 activity

Question 66

p16

Answer 66

inhibits CDK4 and CDK 6

Question 67

p21

Answer 67

inhibits all CDKs except 4 and 6