AD, AR, X-linked recessive, autosomal trisomy disorders

Question 1

Autosomal dominant polycystic kidney dz

Answer 1

• AD

- PKD1=chromosome 16

Question 2

Familial adenomatous polyposis

Answer 2

• AD

- Chromosome 5 (“ad-en-om-a-tous” has 5 syllables)

Question 3

Familial hypercholesterolemia

Answer 3

-AD

Question 4

Hereditary hemorrhagic telangiesctasia

Answer 4

-AD

Question 5

Hereditary spherocytosis

Answer 5

-AD

Question 6

Huntington’s Disease

Answer 6

• AD
• Chromosome 4 (“Hunt 4 food”)
• CAG triplet repeat

Question 7

Marfan syndrome

Answer 7

• AD

- Fibrillin-1 gene

Question 8

Multiple endocrine neoplasias

Answer 8

• AD

- Men 2A and 2B a/w ret gene

Question 9

NF-1 (aka von Recklinghausen dz)

Answer 9

• AD

- Chromosome 17

Question 10

NF-2

Answer 10

• AD

- Chromosome 22

Question 11

Tuberous sclerosis

Answer 11

-AD

Question 12

von Hippel-Lindau dz

Answer 12

• AD

- Chromosome 3

Question 13

Albinism

Answer 13

-AR

Question 14

Autosomal Recessive Polycystic Kidney Dz

Answer 14

-AR

Question 15

Cystic fibrosis

Answer 15

• AR

- CFTR gene on chromosome 7

Question 16

Glycogen storage diseases

Answer 16

-AR

Question 17

Hemochromatosis

Answer 17

-AR

Question 18

Kartagener syndrome

Answer 18

-AR

Question 19

Mucopolysaccharidosis (except Hunter syndrome)

Answer 19

-AR

Question 20

PKU

Answer 20

-AR

Question 21

Sickle cell anemia

Answer 21

-AR

Question 22

Sphingolipidoses (except Fabry dz)

Answer 22

-AR

Question 23

Thalassemias

Answer 23

-AR

Question 24

Wilson dz

Answer 24

-AR

Question 25

Bruton agammaglobulinemia

Answer 25

-XLR

Question 26

Wiskott-Aldrich syndrome

Answer 26

-XLR

Question 27

Fabry dz

Answer 27

-XLR

Question 28

G6PD deificiency

Answer 28

-XLR

Question 29

Ocular albinism

Answer 29

-XLR

Question 30

Lesch-Nyhan syndrome

Answer 30

-XLR

Question 31

Duchenne and Becker Muscular dystrophy

Answer 31

-XLR

Question 32

Hunter syndrome

Answer 32

-XLR

Question 33

Hemophilia A and B

Answer 33

-XLR

Question 34

Ornithine transcarbamylase deficienct

Answer 34

-XLR

Question 35

What gene is deleted in Duchenne MD?

Answer 35

-Dystrophin

Question 36

Genetically, what's the difference btwn Duchenne and Becker MD?

Answer 36

Duchenne is caused by a FRAMESHIFT mutation while Becker is caused by a POINT mutation

Question 37

What are the common trinucleotide repeat diseases and what are their repeats?

Answer 37

- Huntington dz: CAG repeat - Myotonic dystrophy: CTG - Friedreich ataxia: GAA - Fragile X Syndrome: CGG

Question 38

Down syndrome

Answer 38

Trisomy 21

Question 39

Edwards syndrome

Answer 39

Trisomy 18

Question 40

Patau syndrome

Answer 40

Trisomy 13

Question 41

Von Gierke disease

Answer 41

AR

Question 42

Pompe disease

Answer 42

AR

Question 43

Cori disease

Answer 43

AR

Question 44

McArdle disease

Answer 44

AR

Question 45

Maple syrup urine disease

Answer 45

AR

Question 46

PKU

Answer 46

AR

Question 47

Homocystinuria

Answer 47

AR

Question 48

Cystinuria

Answer 48

AR

Question 49

Alkaptonuria

Answer 49

AR

Question 50

Ornithine transcarbamylase deficiency

Answer 50

X-linked recessive

Question 51

Fabry disease

Answer 51

X-linked recessive

Question 52

Gaucher disease

Answer 52

AR

Question 53

Niemann-Pick disease

Answer 53

AR

Question 54

Tay-Sachs disease

Answer 54

AR

Question 55

Krabbe disease

Answer 55

AR

Question 56

Metachromatic leukodystrophy

Answer 56

AR

Question 57

Hurler syndrome

Answer 57

AR

Question 58

Hunter syndrome

Answer 58

X-linked recessive