Commonly used genetic terms Flashcards
allele
one member of a pair or series of genes, one from mother one from father (specific variation of gene)
homozygous
if member of gene pair are identical (same gene product)
heterozygous
having 2 diff alleles of a particular gene
genotype
genetic composition of a person
phenotype
is the observable expression of a genotype in terms of physical and biochemical traits
dominant trait
trait is phenotypically seen in the heterozygote
recessive traint
trait is phenotypically seen ONLY in homozygote
codominance
when both alleles of a gene pair are phenotypically seen in the heterozygote
example of codominance
blood group inheritance (AO, BO, AB)
polymorphism
one or more normal allele (alternate forms) at same locus (specific location) within a gene pool
Normal variations in human gene that account for individual differences in physical traits behaviors and disease susceptibility (SNPs)
gene mutation
biochemical event such as a nucleotide change, deletion, or insertion that produces a new allele for a particular gene
reduced penetrance
when person inherits dominate mutant gene but fails to exhibit that associated phenotype
variable expressivity
autosomal dominate disorders can be epxressed differently in people who carry mutant gene
aneuploidy
having an abnormal number of chromosomes
monosomy
refers to the presence of only one member of a chromosome pair- defects associated with this are sever and often cause miscarriage
polysomy
presence of more than 2 chromosomes to a set occur when a germ cell (egg or sperm) containing more than 23 chromosomes is involved in conception