Genetics Definitions 1000 star topic high yield AF according to Uworld. if you dont know these you will fail the test

Question 1

both alleles contribute to the phenotype of the heterozygote

Answer 1

codominance

Question 2

phenotype varies among indicudals with same genotype

Answer 2

variable expressivity

Question 3

not all individuals with a mutatn genotype show the mutant phenotype

Answer 3

incoplete penetrance

Question 4

one gene contributes to multiple phenotypic effects

Answer 4

pleiotropy

Question 5

if pt inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer deveops

Answer 5

loss of heterozygosity

Question 6

exerts a dominant effect. a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

Answer 6

dominant negative mutation

Question 7

tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance. measured in a population, not in a family, and often vaires in diff populations

Answer 7

linkage disequilibrium

Question 8

presence of genetically distinct cell lines in the same individual

Answer 8

mosaicism

Question 9

mutation arises from mitotic erros after fertilization and propagates through multiple tissues or organs

Answer 9

somatic mosaicism

Question 10

mutaiton only in egg or sperm cells with diff disticnt cell lines

Answer 10

gonadal mosaicsim

Question 11

mutations at different loci can produce similar phenotype

Answer 11

locu heterogeneity

Question 12

different mutations in the same locus produce the same phenothype

Answer 12

alleilic heterogeneity

Question 13

presence of both normal and mutated mtDNA resulting in variable expression in mitochondriallhy inherited disease

Answer 13

heteroplasmy

Question 14

offspring receives 2 copies of a chrom from 1 paretn and no copies from the other paretn

Answer 14

uniparetntal disopy