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trait
specific characteristic or feature of an organism that is influences by its DNA
simple trait
1 gene
clean mendelian ratios
polygenic/complex trait
2-100s genes
many loci with small additive effects
Mendel's 3 Laws
law of segregation
rule of dominance
law of independent assortment
law of segregation
the two alleles at a locus separate during gamete formation - each gamete carries only one
rule of dominance
one allele can mask the expression of another in the heterozygote
law of independent assortment
alleles of different genes assort independently, provided genes are on different chromosomes (or far apart on one)
2 types of genetic crosses
monohybrid cross
dihybrid cross
monohybrid cross
a cross involving a single trait eg. coat colour alone
dihybrid cross
a cross involving two traits eg. coat colour and horn growth
genotype ratio of heterozygous x heterozygous cross at one locus
1:2:1
phenotype ratio of heterozygous x heterozygous cross at one locus
3:1
test cross
always mates the unknown against a homozygous recessive (bb)
what does a 1:1 offspring ratio prove in a test cross?
unknown parent is heterozygous
what is an all dominant litter consistent with in a test cross?
unknown parent is homozygous dominant genotype
test cross issue associated with small litters
all dominant litter is not definitive of a homozygous genotype in the unknown parent
'Product Law' of Probabilities
when two independent events occur simultaneously, their combined probability equals the product of their individual probabilities
how can the law of independent assortment be shown?
dihybrid cross
heterozygous x heterozygous dihybrid cross phenotypic ratio
9:3:3:1
non-mendelian variation
any genetic pattern where traits do not match the predictable dominant and recessive ratios established by Gregor Mendel's laws
co-dominance
both alleles are expressed side-by-side
the two products have the same function, but differ in amino acid sequence
example of co-dominance
roat coat colour in cattle
incomplete dominance
both alleles are expressed as an intermediate phenotype
Crème gene in horses
crème gene dilutes red in the heterozygote, but both red and black pigment in the homozygote
pleiotrophy
single gene controlling or influencing multiple (and possibly unrelated) phenotypic traits
example of pleiotrophy
KIT gene : causes white fur, blue eye and deafness
what can mutations in pleiotrophic genes influence?
multiple unrelated traits
epistasis
when a gene variant at one locus suppresses the effect of a gene at another locus (modifier Genes)
dominant epistasis
a single dominant copy of the epistatic gene is enough to mask the other locus
recessive epistasis
the epistatic gene must be homozygous recessive to have its masking effect
example of a gene that expresses 'dominant masking'
grey gene in horses
example of a gene that expresses 'recessive masking'
yellow gene in labradors
recessive sex-linked traits in dogs
hemophilia A and B
evident in male German Shepherds, Labrador retrievers etc
KIT gene
produces white fur, blue eye and deafness
sex influenced dominance definition + example
an autosomal trait where heterozygotes can be influenced by sex hormones eg. horn growth in sheep
dorset sheep
both sexes are horned
suffolk sheep
both sexes are hornless
result of cross between dorset and suffolk sheep
F1 females hornless, males horned
sex-linked gene
gene is on a sex chromosome (X or Y)
haemophilia in dogs
to which chromosome is haemophilia in dogs linked?
X-linked
sex-influenced gene
autosomal gene, heterozygote expression depends on sex hormones
horn growth in sheep
sex-limited gene
autosomal gene, expressed in only one sex
lactation
multiple alleles
more than two alleles can exist at one locus in a population
the agouti series
set of genes that controls the distribution of black and red/yellow pigments on an animal's hair shafts
Aʸ
dominant yellow/sable
aᵂ
agouti (wild-type banded hair)
aᵗ
tan point
a
non-agouti/solid
eumelanin
black pigment on animal hair shafts
phaeomelanin
yellow/red pigment on animal hair shafts
mitochondrial inheritance
all offspring of an affected female inherit the mitochondrial trait regardless of sex but only her daughters transmit it to the next generation
pedigree clue associated with mitochondrial inheritance
affected males never pass on the trait
conditional mutations
one that only expresses its mutant phenotype under specific environmental conditions
eg. siamese cats, pigmented points + white body
allele of Himalayan gene
responsible for Siamese marking
regulates the stability of Tyrosinase
temperature dependent - young cats and cats maintained at warmer temperatures are lighter than cats that are older and at colder temperatures
tyrosinase
an enzyme in the pathway of making fur pigment
multiple mutation in the same gene
changes structure (and subsequently the function) of a gene
effect of multiple mutation in the same gene over time
many mutations accumulate - leads to presence in a population of alternative alleles at a specific locus
how many mutations are there in the KIT gene?
70