Genetic analysis Flashcards
law of segregationn
two alleles for each gene separate during gamete formation
law of independent assortment
alleles of genes on nonhomologous chromosomes assort independently during gametes
different alleles of the same gene always
segregate independently during meiosis
phenomenon of independent assortment reflects the behavior
alleles of genes that are located on different chromosomes
Gene
the DNA sequence required to synthesize a product important for the function of a cell
Allele
A copy of a gene. Diploids have two alleles of each gene. These alleles can be the same or different
Variant
a specific version of the DNA of a gene
locus
The physical location on the chromosomes of a gene.
How many locus do each gene have in a diploid genome?
one
null mutation
no protein made at all
weak mutation
encoded mutated protein works but not as well
conditional mutation
under some condition, the mutated encoded protein doesn’t work when the wild type protein does
gain-of-function mutation
encoded protein works differently and more than wild type (always on)
Why are alleles recessive?
usually because they are loss of function mutations
What is the phenotype of heterozygote of?
functional protein
Tyrosinase
catalyzes the first step in melanin production
Example of conditional allele in tyrosinase gene
temperature-sensitive mutation
temperature sensitive mutation
different colors concentrated on certain body parts away from heat
incomplete dominance
occurs when 50% of gene product is not sufficient full function
co-dominance
both alleles are visible
3/4 of the progeny of the F2 progeny of a plant heterozygous for the P (purple) and p (white) alleles have purple flowers. What fraction of the purple plants will produce progeny with white flowers by a self cross
2/3
epistasis
two unlinked loci(genes) ‘interact’
Summarize epistasis
mutation at one locus/gene influences a second locus/gene
Name human diseases whose genetic contribution is polygenic (5)
- hypertension
- Type 1 and 2 diabetes
- schizophrenia
- inflammatory bowel disease
- asthma
quantitative variation in humans
distributed around mean
environmental impact
influences phenotypes of gene alleles
Genome-wide association studies
studies human genetics of complex traits
effect of snp
particular snp more or less frequent in affected individuals than in unaffected individuals
multifactorial traits
polygenic and environment plays a role