Inheritance of Human Disease 🗸 Flashcards
Dominant Autosomal inheritance
only one copy is required to cause disease, seen in all generations
50% chance of passing it on if affected
Recessive Autosomal inheritance
2 copies requires to cause disease, often only one generation affected
25% risk of passing it on if parents are carriers
X-linked inheritance
gene fault is on the X chromosome
female with one pathogenic allele and one regular allele will not show major clinical features, but a male with one copy of the fault will be fully affected
what if a female is a carrier of x-linked inheritance?
may show mild features due to x chromosome inactivation
mitochondrial inheritance
have their own genome
only transmitted maternally
mutation will often only be found in proportion of mitochondrial genome
pedigree tree circle
female
pedigree tree square
male
pedigree tree shaded
affected
pedigree tree line through shape
deceased
pedigree tree diagonal lines to next generation
twins/more
pedigree tree square bracket
adopted
pedigree tree triangle
miscarriage
Four ways mutations cause disease
haploinsufficiency
dominant negative
gain of function
complete loss of function
haploinsufficiency
only one copy of working gene, reduced protein production
dominant negative
expression of abnormal protein interferes with normal protein
