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 mutations

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-gene nucleotide change results in a codon for a different amino acid

Answer 8

Missense

Question 9

Various chemical links (sulfur bridge, ionic bond, can der Waals forces) joining amino acids and giving protein molecules their shape

Answer 9

Molecular interactions

Question 10

Substitution mutation in which a cordon 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