Lecture #61

• male=square; female=circle
• carrier = colored in dot in male or femal
• affected =filled in with color
• straight line= marriage or union 
• arrow pointed=proband first person IDed with disease condition
• generation designated by roman numerals
• regular numer show how many in generation

• affects both sex
• two carrier parent made a carrier offspring

the ofspring of affected could be carrier

• cyctis fibrosis 
• sickel cell anemia

• both sexes equally affected
• no generational skipping
• male and female equally pass on

• marfan syndrome
• achodroplasia

understanding percentage of offspring being dominant, carriers, and recessive

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.

• there is no father to son transmission
• usually male are affected

for example if female the disease will not show

y chromosome doesnt have many genes and most or jst for sex determination

• deficency of factor VII of clotting cascade- easy brusining
• nonsence/frameshift mutation
• missence mutation

• duchenne and Beckers muscular dystrophy
• Gloucose 6 dehydrogenase deficency 
• color blind
• hypohidrotic ectodermal 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.

• 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

very sever and lethal in all males

• hypophosphatemic rickets
• incontinentia pigment type I
• Rett syndrome