ch 5 gene interaction Flashcards
haplosufficiency
one copy of the normal gene is able to confer a normal phenotype (dominance)
haploinsufficiency
one copy of the normal gene is unable to confer the normal phenotype (recessive)
mutations of haplosufficient genes are
recessive
mutations of haploinsufficient genes are
dominant
complete dominance
alleles which, when combined in the heterozygote show a phenotype indistinguishable from one of the homozygotes
incomplete dominance
alleles which, when combined in the heterozygote show a phenotypic intermediate between the homozygotes
ex. snapdragons: red and white parents make pink progeny
codominance
alleles which, when combined in the heterozygote show phenotypic characteristics of both homozygotes
ex. blood groups: A, B, and AB
antigen/antibody
ex. blood type A = antigen A on blood cells, anti-B antibodies
blood type AB has antigen A and B, no antibodies
blood type O has no antigens, Anti-A and anti-B antibodies
sickle cell anemia
tropical disease caused by a mutation in the gene coding for hemoglobin
HBa/HBa - no anemia
HBs/HBs - anemic, sickle cell shaped
lethal alleles
an allele whose expression results in the death of the individual expressing it (may be recessive or dominant)
pleiotropic mutation
a mutation that affects several different phenotypic characteristics
ex. Ay in mice affects both coat color and survival
penetrance
the percentage of individuals who develop the phenotype associated with their genotype
(all have the same genotype)
100% penetrant at birth
genotype represents phenotype
ex. cystic fibrosis
expressivity
the extent to which a given phenotype is expressed in an individual
(all have the same genotype, degree to which they express phenotype is different)
biosynthetic pathways
series of steps