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Pedigree Analysis
Rare disease traits would skip generations
** will ask what’s the prob that an individual is heterozygous
** deduce whether or not something is sex linked
There are no “disease” genes
All genes are normally used by the organism. Each somatic cell contains 2 copies
of all autosomal genes. The function of genes can be impaired or modified by
mutations
Mutant alleles are associated with the development of a particular diseased trait
CF: cystic fibrosis transmembrane conductance regulator functions as a chloride
channel
Genetically inherited diseases are rare. Affected individuals for a dominantly
inherited trait are usually heterozygous.
Unless indicated otherwise, for recessively inherited diseases, most unrelated
individuals will not be carriers
Common traits in humans
Dominant: tongue roller, free ear lobe, widow's peak, bent little finger
Recessive: attached ear lobe, hitchiker's tumb
Hallmarks of recessively and dominantly inherited traits
Autosomal recessive
Parents unaffected
Affected progeny are both females and males
Phenotype is rare, often revealed by consanguineous unions
Siblings share 1/2 of alleles, first cousins share 1/8 of their alleles
Mendelian ratios are rarely observed in families bc sample size is small
Autosomal dominant
Phenotype occurs in every generation
Affected parents transmit phenotype to both sons and daughters
On average, half of the children should show phenotype
X-linked dominant
Affected female transmits to 50% male and female progeny
Affected male transmits to 100% of daughters and 0% sons
X-linked recessive
Females are carriers, males are affected
Carrier female will transmit to 50% of sons (affected) and 50% of daughters
(Carriers)
*** review slides 47-end and answer the questions