arrow pointed=proband first person IDed with disease condition
generation designated by roman numerals
regular numer show how many in generation
autosomal recessive inheritance
affects both sex
two carrier parent made a carrier offspring
the ofspring of affected could be carrier
examples of autosomal recessive inheritance
cyctis fibrosis
sickel cell anemia
autosomal dominant
both sexes equally affected
no generational skipping
male and female equally pass on
exaples of autosomal dominant inheritance
marfan syndrome
achodroplasia
recurrent risk
understanding percentage of offspring being dominant, carriers, and recessive
what is unique about the recurrent risk of achondraplasia?
having a homozygous dominant allel is embryonic lethal thus when calculating recurrent risk of this diseaseit would only be 66% or 2/3 since AA is lethal and will not be viable.
what is significant for x-linked inheritance
there is no father to son transmission
usually male are affected
recurrent risk with x linked is depending on sex
for example if female the disease will not show
why doesn't the y chromosome show disease
y chromosome doesnt have many genes and most or jst for sex determination
hemophilia A
deficency of factor VII of clotting cascade- easy brusining
nonsence/frameshift mutation
missence mutation
types of x-linked recessive disease
duchenne and Beckers muscular dystrophy
Gloucose 6 dehydrogenase deficency
color blind
hypohidrotic ectodermal dysplasia
hypohidroticectodermal dysplasia
seen most in females deficency impairs development of sweat glands, hair, and teeth
mutation in EDA gene
mosaicism always for pactches of regular development because of x chromsome inactivation.
mosaicism
x chromosme inactivation happens very early in development and the activated x chromsome is chosen randomly
clones of cells that have diff expressivity of gene in respect to other
X dominant inheritance disease
very sever and lethal in all males
what are some examples of x-linked dominant inheritance