the genetic basis of complex inheritance Flashcards
What is complex inheritance
Inheritance that does not follow mendals laws of inheritance
What is penitence
percentage of individuals that have a dominant allele and express the dominant phenotype
What may cause incomplete penitence
geneticmodifers or environmental factors
what do genetic modifiers do?
they have a quantitive effect on the level of expression of a gene
What gene is responsible for cystic fibrosis
CFTR
what gene is responsible for haemochromotosis?
HFE
what is genomic imprinting?
only gene from one parent is expressed (other one imprinted)
what is extranuclear inheritance
mitchondrial mutations
where does mitochondrial disease come from?
maternal inheritance
why is a mutation 100 x more likely in mitochondria rather than nuclear genome?
lack DNA repair system
Lack protective proteins (histone)
get damage from free radicals
what is homoplasy? is there any disease?
no disease - uniform mitochondrial DNA
what is heteroplasty? disease likelihood?
2 + types of mitchondiral DNA . disease more likely in high number of mitochondrial mutations
What are myopathies and how do ya get them?
neuromuscular diseases - inherited by mitochondrial disease
give 3 myopathies
NEERF
MELAS
CPEO
What is uniparental disomy ?
2 chromomses from one parent (2 copies of one chromomse )
due to non-disjunction
