Chapter 4- Exceptions to mendelian Genetics Flashcards
What is Allele?
alternative form of a gene
Whats Wild type allele and how do we show it?
The allele thats most shown in the population. Not necessarily dominant or recessive. Shown with a +
How do you write names of Protein
All capital with a number
How do you write the name of the gene that makes a protein
All capital with a number BUT IN ITALIC
Whats the effects of mutations?
On recessive mostly loss of function
gene deletions
dysfunctional alleles
alleles that disrupt expression
What does Recessive amorphic loss of function mutation do
it makes it so it doesnt produce a functional thing
What does Recessive hypomorphic loss of function mutation do
It makes it so it produces a partially functional allele marked with an small h
What does dominant negative mutation do
It interferes with the phenotype and makes it his own marked with a Capital D its like a villain!!
Effects of recessive Mutations
Partial loss of function
Full loss of function
conditional loss of function
Effects of dominant mutations
gain of function mutations
Dominant negative mutation
Loss of function due to Haploinsufficent
Whats haploinsufficiency
One of the copies of gene is deleted and the other parental copy is unable to show gene on own
Whats threshold in genes
The barrier that needs to be passed to get expressed in phenotype so maybe heterozygous can be activated too
Whats Bombay phenotype?
the H gene is recessive so no H protein then no things for antigens to bind. it shows like O but its not O
Whats the reason of multiplle alleles in gene evolutionary?
Most likely mantained by balancing due to its role in immunity
Whats allele frequency?
Percentage of total alleles in one gene population
Gene with only one common wild type is called????
Monomorphic
Gene with more then one common allele is called???
polymorphic
is Genotype always => Phenotype?
No maybe incomplete penetrance or low expressivity.Or maybe envirmental needs?
Whats Heterogeneous trait?
multiple genes affecting a singel phenotype
Whats Polygenic traits
Has multiple genes
Whats Complex trait
Multiple genes and PLUS enviroments effect
İn population which genotypes normally have highest numbers?
Heterozygotes!! like a bell curve
Whats Complimentary genes?
You need both dominant of gene to see it expressed if one is recessive it doesn’t show
Whats Complementation analysis and what does it show?
We test if mutation of this same phenotype is by one or two gene. So we simply cross homozygous recessive from both parents and see offspring
