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Flashcards in Diseases Deck (44):
1

Mode of inheritance- Achondroplasia

Autosomal Dominant

2

Mode of inheritance- Polycystic kidney disease

Autosomal Dominant

3

Mode of inheritance- Neurofibromatosis 1 and 2

Autosomal Dominant

4

Mode of inheritance- Marfans

Autosomal Dominant

5

Mode of inheritance- Polydactly

Autosomal Dominant

6

Mode of inheritance- ABO Blood type

Co-dominant inheritance

7

Mode of inheritance- albinism

Autosomal Recessive

8

Mode of inheritance- Cystic Fibrosis

Autosomal Recessive

9

Mode of inheritance- Phenylketonuria

Autosomal Recessive

10

Mode of inheritance- Hemochromatosis

Autosomal recessive

11

Mode of inheritance- Sickle Cell Anemia

Autosomal Recessive

12

Mode of inheritance- Tay-Sachs Disease

Autosomal Recessive

13

Mode of inheritance- Thalassemia

Autosomal Recessive

14

Mode of inheritance- Duchenne Muscular Dystrophy

x linked recessive disorder

15

Mode of inheritance- Red and green color blindness

x linked recessive disorder

16

Hemophilia A

x linked recessive disorder

17

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

allelic heterogeneity

18

The Dystrophin disease exhibits?

Allelic heterogeneity (Becker vs. duchenne muscular dystrophy)

19

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

beckers muscular dystrophy - less severe form

20

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

Duchenne Muscular Dystrophy

21

Mode of inheritance- G6PD deficiency

x linked recessive

22

Mode of inheritance- Hypophosphatemic Rickets

X linked dominant

23

Mode of inheritance- Rett Syndrome

x linked dominant

24

Mode of inheritance- Prostate Cancer

Autosomal mutation with sex limited or sex modified expression

25

Mode of inheritance- Milk production

Autosomal mutation with sex limited or sex modified expression

26

Mode of inheritance- Fragile X syndrome

X-linked
Trinucleotide repeat (CGG)

27

Mode of inheritance- Huntington's disease

Autosomal dominant
Trinucleotide repeat (CAG)

28

Mode of inheritance- Friedreich's Ataxia

Autosomal recessive
Trineucleotide repeat (GAA)

29

Mode of inheritance- Myotonic dystrophy

Autosomal dominant
trineucleotide repeat (CTG)

30

Mode of inheritance- Huntingtons disease

Autosomal dominant inheritance
Trinucleotide repeat (CAG)

31

PKU is a defect in

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

32

Galactosemia is a defect in

G-1-uridyl transferase (CHO metabolism)

33

Tay Sachs is a defect in

hexominidase A
(complex lipid metabolism)

34

Lesch-Nyan syndrome is a defect in

HPRT (purine metabolism)

35

Mode of inheritance- PKU

autosomal recessive

36

Mode of inheritance- Albinism

autosomal recessive

37

Albinism is a defect in

tyrosinase

38

Mode of inheritance- familial hypercholesterolemia

autosomal dominant

39

Familial hypercholesterolemia is a defect in

mutation in the gene that codes for the LDL receptor

40

CTFR gene is on chromosome

7

41

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

codon 508
deletion

42

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

copper transport (transport protein defect)

43

CF is a defect in

chloride transport (transport protein defect)

44

Hemoglobin thalasemmia

is a transport protein defect