Topic 4 - Genes and proteins in health and disease Flashcards Preview

Higher Human Biology Unit 1 > Topic 4 - Genes and proteins in health and disease > Flashcards

Flashcards in Topic 4 - Genes and proteins in health and disease Deck (14):
1

Structure of a polypeptide chain

Amino acids that are linked together by peptide bonds

2

Structure of proteins

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

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Mutations

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

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Single gene mutation

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

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Three different types of single gene mutations

Substitution, Insertion and Deletion

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Single base/nucleotide substitution mutations

Missense, Nonsense and Splice - Site

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Missense Mutations

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

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Nonsense Mutations

Where one amino acid is replaced with a premature stop codon

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Splice - Site Mutations

Creating or destroying the codons for exon - intron splicing

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

Frameshift and nucleotide sequence repeat expansion

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Chromosome Structure and Genetic Disorder Mutations

Deletion, Duplication and Translocation

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Deletion Mutation

Loss of a segment of a chromosome

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Duplication Mutation

Repeat of a segment of a chromosome

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Translocation Mutation

The rearrangement of chromosomal material involving two of more chromosomes