Mendelian Inheritance III Flashcards
Lesson 3
Phenotype
includes physical appearance, internal anatomy, physiology, and behavior
Phenotype = Genotype x Environment
ex: flowers are pink in basic soil and blue in acidic soil
Norm of Reaction
determines the way in which environmental distribution is transformed into the phenotypic distribution for a given genotype
distribution of environments (ex: temp) will be reflected biologically as a distribution of phenotypes (ex: size at maturity)
Impossible to predict the phenotypes of different genotypes in new environments
Pedigree
family tree that describes the interrelationships of parents and children across generations
General Rules about Pedigrees
Rare autosomal dominants
every affected person has an affected parent
about half the offspring of an affected parent are also affected
the phenotype usually occurs in both sexes
General Rules about Pedigrees
Rare autosomal recessives
affected people usually have two parents who are not affected
in affected families, about 1/4 of the children of unaffected parents are affected
the phenotype usually occurs equally in both sexes
Dominantly Inherited Disorders
can be homozygous or heterozygous
achondroplasia: a form of dwarfism, is a dominantly inherited disorder (homozygosity for the dominant allele is lethal)
Recessively Inherited Disorders
show up only in individuals homozygous for the alleles (ex: albinism)
more common than dominantly inherited because carriers are phenotypically normal)
Carriers
heterozygous individuals who carry the recessive allele but are phenotypically normal
Sickle Cell Disease
caused by substitution of a single amino acid in the hemoglobin protein in RBCs
recessively inherited disorder
Why is inherited disorders show variable frequency in different human populations
Due to the historical geographic isolation of different human populations
Timeline
- meiosis is discovered
- Weismann germ plasm theory separates germs cells from somatic cells
- Boveri claims that chromosomes are the physical basis of inheritance
- Mendel’s paper was rediscovered and replicated
*chromosomal theory of heredity