Chapter 3

Question 1

What is gene therapy?

Answer 1

The use of genes in medicine

Question 2

Categories of somatic cell gene therapy

Answer 2

1. Ex vivo - removed from body, incubated and placed back into the body.
2. In situ - vector placed directly into the affected person’s tissue.
3. In vivo - injected into blood stream

Question 3

Vector if use for clinical uses

Answer 3

Murine leukemia virus (MULV)

Question 4

The vectors can accept

Answer 4

Up to 8 kilobases

Question 5

What is a mutation?

Answer 5

A change in the DNA sequence

Question 6

Types of mutations

Answer 6

Large scale and small scale

Question 7

Types of large scale mutation

Answer 7

Genome and chromosome

Question 8

Types of small scale mutations

Answer 8

Point and dynamic mutations

Question 9

Types of point mutations

Answer 9

Base pair substition and small deletions and insertions

Question 10

What is dynamic mutations

Answer 10

Usually trinucleotide repeats

Question 11

Causes of mutations

Answer 11

Change in protein structure,quantity and function.

Question 12

Types of genes?

Answer 12

Housekeeping and specialty

Question 13

Allergic heterogeneity - different types of mutations at the same locus

Answer 13

Variable expression and clinically distinct diseases

Question 14

Modifier efffects

Answer 14

Modifier genes and environment

Question 15

Locus heterogeneity - mutations at different locus cause the same disease

Answer 15

Examples pckd 16 and 4

Question 16

PKU caused by

Answer 16

Deficiency of phenylalanine hydroxylase and Accumulation of Phenylalanine

Question 17

Co factors involved in the transition from phenylalanine to tyrosine

Answer 17

Oxygen, iron and bh4

Question 18

About PKU

Answer 18

Autosomal recessive, 1/9000-1/90000
Commonest

Question 19

What kind of heterogeneity exists in the phenylalanine hydroxlase gene?

Answer 19

Allergic heterogeneity

Question 20

Hyperphenylalaninaemia exhibits

Answer 20

Locus heterogeneity

Question 21

BH4 deficiency causes

Answer 21

Hyperphenylalanaemia - depletion of dopamine and serotonin

Question 22

Family Hypercholesterolemia

Answer 22

• autosomal dominant
• caused by mutation in the ldlr gene

Question 23

Duchenne muscular distrophy

Answer 23

X linked recessive