Lecture 6 Flashcards
What is the wild type allele?
The most commonly found allele in a population
If identical alleles are present on both homologous chromosomes, the organism/cell is said to be ______ for that allele
Homozygous
If one allele is wild type and the other allele is not (I.e mutant allele) the organism/cell is said to be _______ for that allele
Heterozygous
The known mutant alleles for a given gene plus its wild type allele are referred to as an ________ or _________
The known mutant alleles for a given gene plus its wild type allele are referred to as an allelic series or Multiple alleles
Define homozygotes
A cell/organism with identical alleles of a gene of interest
-Two copies of the same allele
Define Heterozygotes
A cell/organism with one wild type copy and one mutant allele of a gene of interest
If an individual has two mutant alleles that are different from each other, what is this referred to as?
- Hereroallelic - general term
or
-Transheterozygous (drosophila community)
or
-Compound heterozygotes (mice community)
Define Hemizygous
A situation where a cell/organism has only one copy of a gene/locus/chromosomal region
What are two examples of when a hemizygote might be observed?
Example 1: deletion - corresponding gene/locus/region is deleted on the homologous chromosome
Example 2: the gene/locus/region occurs naturally in one copy (true for most genes on X or Y chromosomes in an XY individual)
i.e. males are hemizygous for most genes found on sex chromosomes given that they have one X and one Y
Complex traits are typically _______ (involving multiple genes)
Complex traits are typically Polygenic (involving multiple genes)
-likely derived from multiple genes = exibit large variety of phenotypes
Simple traits may be linked to a single gene with multiple alleles. Single gene traits are called ______
Monogenic
What is complete dominance
Type of dominance in which the same phenotype is expressed in homozygotes (AA) and in heterozygotes (Aa); only the dominant allele is expressed in a heterozygote
What is haplosufficiency?
Simply that one functional copy is sufficient for a wild type phenotype
What is incomplete dominance?
Type of dominance in which the phenotype of the heterozygote falls in between the phenotypes of the two homozygotes = blending (i.e both alleles contribute to phenotype
Define codominance
Type of allelic interaction in which the heterozygote simultaneously expresses the phenotypes of both homozygotes
Eg Sickle Cell Anemia: point mutation in haemoglobin
Eg2: Blood type of AO X BO:
Offspring: AO | AB | BO | OO (AB is codominance)
Define Haploinsufficiency
One functional copy is NOT sufficient for a wild type phenotype
Give an example of a heterozygous advantage
Hb^S allele: identical to Hb^S except for a missense mutation that provides some protection against malaria
What three mechanisms explain how a mutated allele can be dominant:
- Haploinsufficiency: one wt copy is not sufficient to produce a wt phenotype
- Dominant Negative Effect
- Gain of Function Effect
What is The dominant-negative effect
the gene product from the mutant allele interferes with the gene product from the WT allele (muller’s morph: “antimorph”), thus blocking the wildtype function
What is the Gain of Function effect?
the mutant allele acquires a new property not present in the WT allele and this new property causes a phenotype (mullers morph - “hypermorph” and “neomorph”