Chapter 4- Part 2 Flashcards
Complete penetrance
all identical genotype shows expected phenotype
incomplete penetrance
some identical genotypes do not show any of the expected phenotype
Expressivity
the degree to which a penetrant gene is phenotypically expressed
What type of expressivity does Neurofibromatosis echibit
Variable expressivity (severity varies) with 50-80% penetrance.
What do the BRCA genes code for?
a protein that prevents cells form growing and dividing uncontrollably (acts as a tumor suppressor)
What do mutations in BRCA genes tend to cause?
breast cancer
what are autosomes
any chromosome that is not a sex chromosome
Limited sex inheritance
- genes on autosomes
- phenotype that appears in only one sex (facial hair)
Influenced sex inheritance
- genes on autosomes
-appear in both sexes but the frequency in each sex is different
Linked Sex inheritance
- X or Y chromosomes
Cleft lip and palate are examples of
sex influenced traits
Systemic lupus Erythematosus
Sex influenced trait that expresses mostly in women
Microchimerism
the presence of two genetically distinct cell populations in the same individual
Explain how age can affect expression
Not all genes are active at the same time, activation and deactivation occurs as the organism ages
Temperature affecting traits
some alleles may encode temp sensitive mutant proteins (color of Siamese cats)