Lecture 1

Question 1

Define allele

Answer 1

Genetic variations that do not cause disease
different forms of the same gene usually dominant or recessive

Question 2

Define polymorphism

Answer 2

Conserved mutation
passed on as an inherited characteristic
causes changes in protein function
examples - CYP450 enzymes

Question 3

Define SNPS

Answer 3

Single Nucleotide Polymorphism - most common
DNA sequence variation of a single nucleotide at the same position in the genome between members of the same species e.g. AAGCCTA and AAGCTTA

Question 4

What can SNPs lead to?

Answer 4

Changes in amino acid codon
Altered functions of expression of protein
Affect where/when protein is expressed

Question 5

Define mutation

Answer 5

individual change to a gene which has a significant effect on protein function/ expression
Generally results in a disease state

Question 6

Define SSRs (Simple Sequence Repeat)

Answer 6

Tandem repeat of 2-8 base sequences
Different individuals inherit different number of repeats at each loci

Question 7

Define autosomal recessive allele

Answer 7

Both parents must be at least heterozygous for condition

Question 8

Define autosomal dominant alleles

Answer 8

Express itself in the phenotype of a heterozygous individual e.g. Huntington’s Disease, hypercholesterolemia

Question 9

Define X-linked recessive alleles

Answer 9

Most often expressed in males
females must be heterozygous
examples include blindness, haemophilia
Neither parent has to show the trait

Question 10

Define Huntington’s disease

Answer 10

Dominant mutation
duplicates a simple sequence repeat
when copied, slips on template and gets copied again end up with multiple repeats

Question 11

Define a conserved polymorphic variation

Answer 11

Disease predisposition
e.g. HLA-DR4 allele - associated with RA

Question 12

Define pharmacogenetics

Answer 12

Influence of an individuals genetic variation on their response to medicines, could be due to differences in the expression levels of proteins
Using genomic information in the discovery of new medicines and targets
Studying drug interactions with multiple genes in large patient groups

Question 13

What can proteins be?

Answer 13

Overexpressed
Underexpressed
Constitutively active