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Unformatted text preview: somal
(Incompletely) Dominant Trait
• Familial hypercholesterolemia: blood cholesterol is greatly
elevated due to a defect in cholesterol transport. • Mechanism: • Low-density lipoprotein (LDL) is a principle lipoprotein in
the transport of cholesterol. • Mutation in the gene encoding the LDL receptor
• The LDL receptor transports LDL into cells to be broken
down and cholesterol released for use by the cell. Example of an Autosomal
(Incompletely) Dominant Trait • Inheritance:
• Heterozygotes usually have heart attacks by age 35 (half is
• Homozygotes are rare, and often suffer heart attacks by age 2.
• Thus, the phenotype is dose-dependent. X-linked (or Sex-linked) Recessive Traits • More males are
females are rare).
• Usual transmission is
from a carrier
woman to her son.
• Daughters of carrier
mothers have a 50%
chance of being
carriers. X-linked (or Sex-linked) Recessive Traits • Not passed from
father to son.
• Affected woman
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