1.4 Genes And Proteins In Health And Disease Flashcards Preview

Higher Human Biology Unit 1 > 1.4 Genes And Proteins In Health And Disease > Flashcards

Flashcards in 1.4 Genes And Proteins In Health And Disease Deck (16)
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1

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

Chromosome

2

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

Deletion (of genes)

3

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

Deletion (of nucleotides)

4

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

Duplication

5

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

Frameshift mutations

6

Inherited disease in which blood clotting fails or is very slow

Haemophilia

7

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

Insertion

8

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

Missense

9

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

Molecular interactions

10

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

Nonsense

11

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

Nucleotide sequence repeat

12

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

Protein

13

Disease caused by a substitution mutation in the gene encoding haemoglobin

Sickle cell disease

14

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

Splice-site mutation

15

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

Substitution

16

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

Translocation