Exam 1 Review

Question 1

Achondroplasia inheritance

Answer 1

Autosomal dominant

Question 2

Achondroplasia defect

Answer 2

FGFR3

Question 3

Achondroplasia phenotype

Answer 3

Dwarfism

Question 4

Familial hypercholesterolemia inheritance

Answer 4

Autosomal dominant

Question 5

Familial hypercholesterolemia defect

Answer 5

LDL receptor

Question 6

Familial hypercholeterolemia phenotype

Answer 6

High scholesterol and heart disease

Question 7

Osteogenesis imperfecta inheritance

Answer 7

Autosomal dominant

Question 8

Osteogenesis imperfecta defect

Answer 8

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

Question 9

Osteogenesis imperfecta phenotype

Answer 9

Brittle bone disease

Blue sclera

Question 10

Marfan’s syndrome inheritance

Answer 10

Autosomal dominant

Question 11

Marfan’s syndrome defect

Answer 11

Fibrillin I mutation

Question 12

Marfan’s syndrome phenotype

Answer 12

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

Question 13

Neurofibromatosis I inheritance

Answer 13

Autosomal dominant

Question 14

NF I defect

Answer 14

Neurofibromin mutation

Question 15

NF I phenotype

Answer 15

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

Question 16

APCKD inheritance

Answer 16

Autosomal dominant

Question 17

APCKD defect

Answer 17

Genes for nephrons

Question 18

APCKD phenotype

Answer 18

Cystic nephrons (<5%)

Question 19

Huntington’s inheritance

Answer 19

Autosomal dominant

Question 20

Huntington’s defect

Answer 20

CAG expansion

Question 21

Huntington’s phenotype

Answer 21

Dementia, memory loss, choreic movement

Destruction of caudate, putamen, internal capsule, coronal radiata

Question 22

Cystic fibrosis inheritance

Answer 22

Autosomal recessive

1/25 people is a carrier

Question 23

CF defect

Answer 23

Up to 900 mutations in CFTR

Question 24

CF phenotype

Answer 24

Lung fibrosis, thick mucus, pancreatic insufficiency

Question 25

Albinism inheritance

Answer 25

Autosomal recessive

Question 26

Albinism defect

Answer 26

Tyrosinase gene mutation-->lack of melanin

Question 27

Albinism phenotype

Answer 27

Lack of coloring in skin, hair, etc

Question 28

Sickle cell inheritance

Answer 28

Autosomal recessive

Question 29

Sickle cell defect

Answer 29

Glu-->Val on Beta 6 chain

Question 30

Sickle cell phenotype

Answer 30

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

Question 31

Thalassemia inheritance

Answer 31

Autosomal recessive

Question 32

Thalassemia defect

Answer 32

Alpha or beta globin gene

Question 33

Thalassemia phenotype

Answer 33

Hepatosplenomegaly and anemia

Question 34

Hereditary hemochromatosis inheritance

Answer 34

Autosomal recessive

Question 35

Hereditary hemochromatosis defect

Answer 35

Leading to iron overload

Question 36

Hereditary hemochromatosis phenotype

Answer 36

Liver cirrhosis, diabetes, heart disease, bronze skin

Question 37

Tay Sachs inheritance

Answer 37

Autosomal recessive

Question 38

Tay Sachs defect

Answer 38

Hexosaminidase A deficiency

Question 39

Tay Sachs phenotype

Answer 39

Lysosomal storage disorder Seizures Blindness Death

Question 40

PKU inheritance

Answer 40

Autosomal recessive

Question 41

PKU defect

Answer 41

Phenylalanine hydroxylase

Question 42

PKU phenotype

Answer 42

Mental retardation

Question 43

Hypophosphatemic rickets inheritance

Answer 43

X-linked dominant

Question 44

Hypophosphatemic rickets defect

Answer 44

Phosphate uptake in kidneys

Question 45

Hypophosphatemic rickets phenotype

Answer 45

Soft bones

Question 46

Rett syndrome inheritance

Answer 46

X-linked dominant

Question 47

Rett syndrome defect

Answer 47

Neurodevelopment disorder

Question 48

Rett syndrome phenotype

Answer 48

Autism affecting only girls--boys don't survive | Microcephaly, loss of movement and coordination

Question 49

Duchenne muscular dystrophy inheritance

Answer 49

X-linked recessive

Question 50

DMD defect

Answer 50

Dystrophin gene mutation

Question 51

DMD phenotype

Answer 51

Muscle degeneration and weakness

Question 52

Hemophilia inheritance

Answer 52

X-linked recessive

Question 53

Hemophilia defect

Answer 53

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

Question 54

Hemophilia phenotype

Answer 54

Bleeding into joints and hematomas

Question 55

G6PD deficiency inheritance

Answer 55

X-linked recessive

Question 56

G6PD defect

Answer 56

Lack of glucose-6-phosphate dehydrogenase

Question 57

G6PD phenotype

Answer 57

Normal until triggered, then hemolytic anemia

Question 58

Fragile X inheritance

Answer 58

X-linked dominant

Question 59

Fragile X defect

Answer 59

CGG expansion in 5' UTR of FMR gene

Question 60

Fragile X phenotype

Answer 60

Mental retardation, long face, long ears

Question 61

Autosomal dominant risk

Answer 61

50%

Question 62

Autosomal recessive risk

Answer 62

25%

Question 63

X-linked dominant risk

Answer 63

50% of all children

Question 64

X-linked recessive risk

Answer 64

50% of sons of carrier mothers