CELS 191 Lecture 24 Flashcards
(13 cards)
what are mutations
permanent change to the DNA sequence - these can be inherited or acquired
what are germline mutations
mutations that inherited and are passed on via the gametes
what are somatic mutations
mutations acquired by somatic cells if DNA gets damaged or is copied incorrectly - these mutation are not passed on to the next generation
a mutation can be either…
heterozygous or homozygous
what is a loss of function mutation
when the mutation breaks the gene and causes it not work as well as normal, or to not work at all
are loss of function mutations dominant or recessive
recessive
what are gain of function mutations
mutations that cause a gene to work too well, or to do something unexpected
are gain of functions usually dominant or recessive
dominant
by examining the inheritance pattern of an allele we can determine…
if its dominant or recessive and if it is Y-linked, X-linked or autosomal
what are polygenic disorders
disorders that involve several genes acting together or environmental factors interacting with genes - these do not follow straightforward inheritance patterns
does having a disease related variant mean you will get the disease
no - such diseases come about through a combination of variants and the environment - different sufferers may have different disease mechanisms - most genetic disorders are probabilistic not deterministic
can fathers pass of x linked traits to their sons
no - there is no male-male transmission
who do X linked recessive traits most often affect
males