Extensions Of Mendel’s Law Part 2 Flashcards
In large populations , more than one wild-type allele ma y occur—a p henomenon known as
Genetic polymorphism
prevalent alleles in a natural population as
wild-t yp e alleles
random mutations occur in population and alter preexistig alleles.
Mutant alleles
Because random mutations are more likel y to disrupt gene function,____ are often defective in their abilit ability to express a functional p rotein. Such _____ tend to be rare in natural populations. They are typically, but not alwa y s, inherited in a recessive fashion
mutant alleles
Phenylketonuria
Phenylalanine hydroxylase
Albinism
Tyrosinase
Tay-Sachs disease
Hexosaminidase A
Sandhoff disease
Hexosaminidase B
Cystic fibrosis
Chloride transporter
Lesch-Nyhan syndrome
Hypoxanthine-guanine phosphoribosyl transferase
One of three mechanisms accounts for most dominant mutant alleles:
a gain-of-function mutation
a dominant-negative mutation
haploinsufficiency .
chan g e the g ene or the p rotein encoded by a gene so that it gains a new or abnormal function
Gain-of-function mutations
For exam p le, a mutant g ene ma y be overex p ressed, thereb y p roducin g too much of the encoded p rotein.
Gain-of-function mutations
change protein such that the mutant protein acts antagonistically to the normal protein. In a heterozygote, the mutant p rotein counteracts the effects of the normal protein, thereby altering the phenotype.
Dominant-negative mutations
, the dominant mutant allele is a lossof-function allele.
Haploinsufficiency
is used to describe p atterns of inheritance in which a heteroz yg ote ( with one functional allele and one inactive allele ) exhibits an abnormal or disease phenotype
Haploinsufficiency