phenotypic variability Flashcards

1
Q

how does environment affect phenotypic variability

A

expression of gene is modified by environmental factors

eg haematochromatosis - low iron intake improves outcomes

wide range of variability implies environmental

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2
Q

how does sex cause phenotypic variability

A

where someone’s sex affects gene expression

eg in haemochromatosis, women lose iron through menstruation so less build up

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3
Q

how do modifiers affect phenotypic variability

A

when the expression of one gene is directly impacted by the expression of another

eg in cystic fibrosis

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4
Q

what does it mean by mutation phenotypic variability

A

where different mutated subtypes of same gene have different presentations

eg duchenne and becker muscular dystrophy

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5
Q

what does unstable phenotypic variability mean

A

trinucleotide repeat disorders
where an increased number of nucleotide repeats ( >27) cause more severe phenotypes throughout generations

eg huntingtons

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