Topic 4 - Genes and proteins in health and disease

Question 1

Structure of a polypeptide chain

Answer 1

Amino acids that are linked together by peptide bonds

Question 2

Structure of proteins

Answer 2

Chains held together by peptide bonds, hydrogen bonds and other interactions that form between different amino acids

Question 3

Mutations

Answer 3

Genetic disorders that are caused by changes to genes or chromosomes and result in proteins either not being expressed fully or them not functioning properly

Question 4

Single gene mutation

Answer 4

The alteration of a DNA nucleotide sequence as a result of the substitution, insertion or deletion of nucleotides

Question 5

Three different types of single gene mutations

Answer 5

Substitution, Insertion and Deletion

Question 6

Single base/nucleotide substitution mutations

Answer 6

Missense, Nonsense and Splice - Site

Question 7

Missense Mutations

Answer 7

When one amino acid codon is replaced with another different amino acid codon

Question 8

Nonsense Mutations

Answer 8

Where one amino acid is replaced with a premature stop codon

Question 9

Splice - Site Mutations

Answer 9

Creating or destroying the codons for exon - intron splicing

Question 10

What type of mutations can insertion and deletion mutations result in?

Answer 10

Frameshift and nucleotide sequence repeat expansion

Question 11

Chromosome Structure and Genetic Disorder Mutations

Answer 11

Deletion, Duplication and Translocation

Question 12

Deletion Mutation

Answer 12

Loss of a segment of a chromosome

Question 13

Duplication Mutation

Answer 13

Repeat of a segment of a chromosome

Question 14

Translocation Mutation

Answer 14

The rearrangement of chromosomal material involving two of more chromosomes