Diseases

Question 1

Mode of inheritance- Achondroplasia

Answer 1

Autosomal Dominant

Question 2

Mode of inheritance- Polycystic kidney disease

Answer 2

Autosomal Dominant

Question 3

Mode of inheritance- Neurofibromatosis 1 and 2

Answer 3

Autosomal Dominant

Question 4

Mode of inheritance- Marfans

Answer 4

Autosomal Dominant

Question 5

Mode of inheritance- Polydactly

Answer 5

Autosomal Dominant

Question 6

Mode of inheritance- ABO Blood type

Answer 6

Co-dominant inheritance

Question 7

Mode of inheritance- albinism

Answer 7

Autosomal Recessive

Question 8

Mode of inheritance- Cystic Fibrosis

Answer 8

Autosomal Recessive

Question 9

Mode of inheritance- Phenylketonuria

Answer 9

Autosomal Recessive

Question 10

Mode of inheritance- Hemochromatosis

Answer 10

Autosomal recessive

Question 11

Mode of inheritance- Sickle Cell Anemia

Answer 11

Autosomal Recessive

Question 12

Mode of inheritance- Tay-Sachs Disease

Answer 12

Autosomal Recessive

Question 13

Mode of inheritance- Thalassemia

Answer 13

Autosomal Recessive

Question 14

Mode of inheritance- Duchenne Muscular Dystrophy

Answer 14

x linked recessive disorder

Question 15

Mode of inheritance- Red and green color blindness

Answer 15

x linked recessive disorder

Question 16

Hemophilia A

Answer 16

x linked recessive disorder

Question 17

Different mutations in the same gene causing different disorders is called?

Answer 17

allelic heterogeneity

Question 18

The Dystrophin disease exhibits?

Answer 18

Allelic heterogeneity (Becker vs. duchenne muscular dystrophy)

Question 19

A large deletion and intact reading frame mutation in the Dystrophin disease results in

Answer 19

beckers muscular dystrophy - less severe form

Question 20

A small deletion, that changes the reading frame in the dystrophin gene result in

Answer 20

Duchenne Muscular Dystrophy

Question 21

Mode of inheritance- G6PD deficiency

Answer 21

x linked recessive

Question 22

Mode of inheritance- Hypophosphatemic Rickets

Answer 22

X linked dominant

Question 23

Mode of inheritance- Rett Syndrome

Answer 23

x linked dominant

Question 24

Mode of inheritance- Prostate Cancer

Answer 24

Autosomal mutation with sex limited or sex modified expression

Question 25

Mode of inheritance- Milk production

Answer 25

Autosomal mutation with sex limited or sex modified expression

Question 26

Mode of inheritance- Fragile X syndrome

Answer 26

X-linked
Trinucleotide repeat (CGG)

Question 27

Mode of inheritance- Huntington’s disease

Answer 27

Autosomal dominant
Trinucleotide repeat (CAG)

Question 28

Mode of inheritance- Friedreich’s Ataxia

Answer 28

Autosomal recessive
Trineucleotide repeat (GAA)

Question 29

Mode of inheritance- Myotonic dystrophy

Answer 29

Autosomal dominant
trineucleotide repeat (CTG)

Question 30

Mode of inheritance- Huntingtons disease

Answer 30

Autosomal dominant inheritance
Trinucleotide repeat (CAG)

Question 31

PKU is a defect in

Answer 31

phenylalanine hydrogenase (PAH) (AA metabolism)
Phe ---> Tyrosine

Question 32

Galactosemia is a defect in

Answer 32

G-1-uridyl transferase (CHO metabolism)

Question 33

Tay Sachs is a defect in

Answer 33

hexominidase A

complex lipid metabolism

Question 34

Lesch-Nyan syndrome is a defect in

Answer 34

HPRT (purine metabolism)

Question 35

Mode of inheritance- PKU

Answer 35

autosomal recessive

Question 36

Mode of inheritance- Albinism

Answer 36

autosomal recessive

Question 37

Albinism is a defect in

Answer 37

tyrosinase

Question 38

Mode of inheritance- familial hypercholesterolemia

Answer 38

autosomal dominant

Question 39

Familial hypercholesterolemia is a defect in

Answer 39

mutation in the gene that codes for the LDL receptor

Question 40

CTFR gene is on chromosome

Answer 40

7

Question 41

In 70% Cystic fibrosis, a mutation in what codon is present?

Answer 41

codon 508

deletion

Question 42

Menke’s/Wilson’s syndrome is a defect in

Answer 42

copper transport (transport protein defect)

Question 43

CF is a defect in

Answer 43

chloride transport (transport protein defect)

Question 44

Hemoglobin thalasemmia

Answer 44

is a transport protein defect