NUR 402 Study Guide - Midterm Guide: Integrase, Avascular Necrosis, Cervical Cancer
2 May 2017
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Caused by a mutation of a single gene pair (heterozygous) on a chromosome. Variable expression: symptoms expressed by the individuals with the mutated gene very from person to person even though they have the same mutated gene* Incomplete penetrance: cause a new mutation or skip a generation sometimes. Children of a heterozygous (affected) parent have a 50% chance of being affected. Examples: breast and ovarian cancer r/t brca genes; familial hypercholesterolemia; Children of two heterozygous parents have 25% chance of being affected and 50% chance of being carriers. Caused by mutations of two gene pairs (homozygous) on a chromosome. Sons of affected male are unaffected (unless mother is a carrier) *both a and b are x- linked recessive disorders caused by a deficient. Slow, persistent, prolonged bleeding from minor trauma or small cuts. Lab studies: used to determine the type of hemophilia present. Partial thromboplastin time: prolonged b/c of deficiency in intrinsic clotting system factor.
