Lecture 17: Beyond Mendel Flashcards
Incomplete Dominance
In between (red and white = pink)
Incomplete Dominance in Human Traits
Sickle-cell disease
•Homozygote recessive has sickle-cell disease
•Heterozygote has milder sickle-cell trait
Familial hypercholesterolemia
•Homozygote has severe form of disease
•Heterozygote has mild form of disease
Tay-Sachs disease
•Homozygote has serious symptoms
•Heterozygote has no symptoms but has detectable biochemical effects
Sickle Cell Anaemia
OMIM 603903
•A mutation in the gene coding for Beta haemoglobin reduces the ability of the red blood cells to carry oxygen.
•People with sickle cell anaemia are homozygous for the recessive Hb-S allele
•Hb-A/Hb-S individuals (heterozygotes) have sickle cell trait
Co-dominance
Different alleles of gene have equal effects in heterozygotes
•Both alleles expressed
•Human M, MN, and N blood types
•LMLM = M glycoprotein present; blood type M
•LNLN = N glycoprotein present; blood type N
•LMLN = both glycoproteins present; blood type MN
•Similar inheritance to incomplete dominance
Multiple Alleles
Three or more alleles for a gene
•Found among all individuals in a population
•Diploid individuals only have two of the alleles
•Phenotype depends on relationship between alleles
•Still follows Mendel’s principles
Multiple Alleles (and Co-dominance)
A and B Antigens
•IA allele produces A antigen (dominant)
•IB allele produces B antigen (dominant)
•i allele produces neither A nor B (recessive)
ABO Blood types (phenotypes) •IAIA or IAi = type A blood •IBIB or IBi = type B blood •ii = type O blood •IAIB = type AB blood
Epistasis in Labrador Retrievers
Genes interact
•Allele of one locus inhibits or masks effects of allele at a different locus
•Some expected phenotypes do not appear among offspring
i.e.Labrador Retrievers •Melanin pigment gene •B allele: black fur colour (dominant) •b allele: brown fur colour (recessive) •Pigment deposition gene •E allele: pigment deposition normal (dominant) •e allele: pigment deposition blocked (recessive) •Phenotypes •Black fur: BB EE, BB Ee, Bb EE, Bb Ee •Brown fur: bb EE, bb Ee •Yellow fur: BB ee, Bb ee, bb ee
Epistasis in Humans
Bombay phenotype
Pleiotropy
the condition in which single genes affect more than one character of an organism
Multifactorial inheritance
- 1 gene multiple phenotypes = pleiotropy
- 1 phenotype multiple genes/factors
- Multifactoral =
- Multiple genes (and alleles)
- Environment – internal (other genes)
- external (physiological, etc)
Polygenic inheritance
Several genes at different loci interact to control the same character
•Produces continuous variation
•Phenotypic distribution: Bell-shaped curve
Multifactoral inheritance – Effect of environment
- C gene = determines pigment expression
- C = permits colour expression
- c = prevents colour expression
- c/c = epistatic to other colour genes; albino
- ch = Himalayan allele; ts allele i.e. pigment is only made at colder body extremities
Variable Expressivity
Coat colour in Siamese cat