1.4 - Genes And Proteins In Health And Disease

Question 1

Rod-like structure that contains the genetic material of an organism encoded into DNA.

Answer 1

Chromosome

Question 2

Chromosome mutation in which a sequence of genes is lost from a chromosome.

Answer 2

Deletion (of genes)

Question 3

Single-gene mutation involving removal of a nucleotide from a sequence.

Answer 3

Deletion (of nucleotides)

Question 4

Chromosome mutation in which a sequence of genes is repeated on a chromosome.

Answer 4

Duplication

Question 5

Gene mutation in which all amino acids coded for after the mutation are affected.

Answer 5

Frameshift mutation

Question 6

Inherited disease in which blood clotting fails or is very slow.

Answer 6

Haemophilia

Question 7

Single-gene mutation in which an additional nucleotide is placed into a sequence.

Answer 7

Insertion

Question 8

Substitution mutation; a single nucleotide change results in a codon for a different amino acid.

Answer 8

Missense

Question 9

Various chemical links (e.g. summit bridge, ionic bond, van der waals forces) joining amino acids and giving protein molecules their shape.

Answer 9

Molecular interactions.

Question 10

Substitution mutation in which a codon is changed to a stop codon, shortening the resulting protein.

Answer 10

Nonsense

Question 11

Repeated sequence of nucleotides, which can be expanded by some gene mutations.

Answer 11

Nucleotide sequence repeat

Question 12

Large molecule made up of chains of amino acids linked by peptide bonds.

Answer 12

Protein

Question 13

Disease caused by a substitution mutation in the gene encoding haemoglobin.

Answer 13

Sickle cell disease

Question 14

Mutation at a point where coding and non-coding regions meet in a section of DNA.

Answer 14

Splice-site mutation

Question 15

Single-gene mutation in which one nucleotide is replaced by another.

Answer 15

Substitution

Question 16

Chromosome mutation in which part of a chromosome becomes attached to another.

Answer 16

Translocation