Recessive Mutants
In Mendelian Inheritance the recessive allele does not affect the phenotype of
heterozygotes
Dominant mutants are dominant over
wild type alleles
Name of the amino acid that causes phenylketonuria
phenylalanine
amount of functional product when wild type and mutant protein are combined (dominant mutant)
1/4
allele that is not expected to cause a certain phenotype but does
incomplete penetrance
The genotype of Mendel's pea plants that had complete loss of function
pp
change gene by resulting in new or abnormal function
gain of function mutation
lack of pigmentation in the skin eyes and hair
albinism
(affected/non affected) children of parent with cystic fibrosis. one parent with wild type genes one parent with mutant genes. the children are
non affected
incomplete penetrance disease that is caused by a dominant mutant allele
polydactyly
when the gene in the DNA encodes protein P and becomes mRNA
This disease is an example of dominant mutant protein
Huntington's Disease
phenylalanine free diet
wild type huntingtin vs mutant huntingtin
mutant
phenotype is intermediate between the two homozygous individuals
incomplete dominance
Recessive mutant alleles normally result in
decrease of functional protein
haploinsufficiency
inability to regulate ion balance across epithelial cells
cystic fibrosis
(dominant) homozygous wild type creates
functional protein
phenotypic ratio of four o'clock red and white flowers F2 generation
1:2:1
phenotype of a 100% functional protein in the pea plant
PP
mutant protein counteracts normal protein altering the phenotype
heterozygote
causes change in shape to erythrocytes
sickle cell anemia
(dominant) heterozygous wild type/mutant creates
nonfunctional protein
single copy is sufficient to causes disease but doesn't always
incomplete penetrance