Types Of Mutations

Question 1

Hemophilia B

Answer 1

Factor IX

Point mutation gene promoter

Question 2

Tay Sachs

Answer 2

Hex A

Point mutation in the splicing site

Question 3

Sickle Cell

Answer 3

B-globin

Missense Point mutation

Question 4

Neurofibromatosis

Answer 4

NF1

Nonsense point mutation

Question 5

B-thalassemia

Answer 5

B-globin

Different types of point mutations

Question 6

Tay Sachs most common

Answer 6

HexA

4bp insertion

Question 7

Cystic Fibrosis

Answer 7

CFTR

3bp deletion F508

Question 8

A-thalassemia

Answer 8

A-globin

aberrant recombination and large deletions

Question 9

Charcot marie tooth

Answer 9

PMP22

Aberrant recombination and large insertion

Question 10

Highly methylated =

Answer 10

Silent transcription

Question 11

SNP

Answer 11

Single nucleotide

Question 12

STRP

Answer 12

Micro satellites

2-6 BP repeats

Question 13

VNTR

Answer 13

Mini satellites

20-70 BP repeats

Question 14

CNV

Answer 14

1000-2 million repeats

Question 15

Causes of genetic variation

Answer 15

1. New mutations
2. Founder effect
3. Non random mating (consanguinity)
4. Genetic shuffling/ crossing over
5. Genetic drift/ chance changes over time
6. Gene flow/ exchange b/w populations
7. Natural selection

Question 16

A-thalassemia (types)

Answer 16

Normal- 4 functioning alleles
Silent- carrier with 3 normal alleles
A-thalassemia trait- 2 normal alleles, mild anemia
HbH disease- 1 normal allele, moderate severe anemia
Hydrops fetalis- 0 alleles