Mendelian Genetics
Mendel’s Experiments
● Johann Gregor Mendel – 1822-1884
○ began research on inheritance patterns in honey bees and plants (pea plants as primary
model system)
○ presented results of experiments with 30,000 pea plants to local Natural History Society
○ published work Experiments in Plant Hybridization in 1866
● blending theory of inheritance – original parental traits lost or absorbed by blending in offspring
○ believed before Mendel’s work
● continuous variation – action of many genes to determine characteristic like height
● discontinuous variation – traits inherited in distinct classes
○ allowed to see that traits were not blended by kept distinctness and can be passed on
Mendel’s Model System
● Pisum sativum or garden pea used to study inheritance
○ self-fertilizes naturally, petals sealed tightly after fertilization → true-breeding or highly inbred
○ avoided unexpected traits
○ large quantities can be cultivated simultaneously
Mendelian Crosses
● hybridizations – mating two true-breeding individuals w/ diff. traits
○ manually transferring pollen from anther to stigma of the pea plant
○ pollen carries male gametes to stigma that traps pollen and allows to move down pistil to
female gametes below
● P0 – parental generation one, used in first-generation crosses
● F1 – offspring of P0, first filial generation, Mendel allowed self-fertilization of pea plants in F1
● F2 – second filial generation
Heredity
● trait – variation in physical appearance of heritable characteristic
● all self-crossed offspring of parents with a certain trait had the same trait
● reciprocal cross – paired cross where respective traits of male and female in cross become traits
of female and male in other cross
● recessive traits – disappear in offspring of hybridization
○ observation of recessive trait meant that organism lacked dominant version of trait
● dominant traits – inherited unchanged in hybridization
Characteristics and Traits
● alleles – gene variants thru mutation at same relative locations on homologous chromosomes
● phenotype – observable traits
● genotype – entire genetic makeup, phenotype + unexpressed alleles
● homozygous – two identical alleles of a gene or genes
○ true-bred because both gametes carried same traits
● heterozygous – two different alleles of a particular gene or genes
○ P1 plants contrasting traits cross-fertilized
● heteromorphic chromosomes – different size chromosomes
● expressed unit factor – dominant allele
● latent unit factor – recessive allele
Punnett Squares
● monohybrid cross – fertilization between two-true breeding parents
● monohybrids – offspring of two different true-bred parents
● Punnett square – devised by British geneticist Reginald Punnett, applies probability to predict
outcomes of genetic cross and expected frequencies
● test cross – determines if expressed trait is dominant or
recessive, dominant expressing crossed with homozygous
recessive
● if dominant expressing organism is homozygous → all F1
offspring will be heterozygous expressing dominant trait
● if dominant expressing is heterozygous → F1 offspring
will have 1:1 ratio of heterozygous and recessive homozygotes
Pedigree Analysis
● studies inheritance pattern of human genetic
diseases
Non-Mendelian Genetics
● multiple genes or polygenic – traits are controlled by two or more gene pairs located in several loci
in one or more chromosomes
○ phenotype not determined by one gene pair only
● incomplete dominance – expression of two contrasting alleles such that individual displays
intermediate phenotype
○ (CRCR or red flowers reproduce with CWCW or white flowers to form CRCW or pink)
○ 1 CRCR:2 CRCW:1 CWCW
● codominance – both alleles simultaneously expressed in heterozygote
○ MN blood groups → both N and M alleles with N and M antigens expressed simultaneously
○ 1:2:1 genotypic ratio applies
● multiple alleles –
○ wild type – most common phenotype or genotype among wild animals, standard
○ variants – all other genotypes or phenotypes
■ coat color of rabbits,
(C+C+ for brown fur,
wild-type; CchCch black
fur on extremities, white
fur elsewhere, Himalayan
phenotype; cc for albino
phenotype)
X Linked Traits
● sex of individual determined by sex chromosomes – one pair of nonhomologous chromosomes
○ XY in males, XX in females (Y chromosome much shorter and fewer genes)
● X-linked gene – present on X chromosome but not on Y chromosome
○ eye color in Drosophilia one of the first → Thomas Hunt Morgan mapped trait
■ Drosophilia males lack second allele copy on Y chromosome
● hemizygous – one allele for any X-linked characteristic
● autosomes – non-sex chromosomes
Human Sex-Linked Disorders
● Thomas Hunt Morgan sex-linkage studies gave
fundamentals for X-linked recessive disorders in
human (e.g. red-green color blindness, types A and
B hemophilia)
● males need to only inherit one recessive mutant X
allele to be affected, X-linked disorders more
common in males
● females need to inherit from both parents to
express trait
○ one recessive X-linked mutant and one
recessive X-linked wild-type allele → carrier
female manifest mild forms due to inactivation of dominant allele
Lethality
● nonfunctional allele for essential gene can happen thru mutation and transmitted as long as
individuals w/ allele have wild-type functional copy → functions sufficiently to sustain life, dominant
over nonfunctional allele
● two heterozygous parents w/ genotype of wild-type/nonfunctional mutant for essential gene →
homozygous recessive for nonfunctional allele
○ 2:1 genotypic ratio in recessive lethal allele in heterozygous individuals
■ Curly allele in Drosophila → wing shape in hetero, lethal in homo
● recessive lethal – inheritance pattern where allele is only lethal in homozygous form
● dominant lethal – inheritance pattern where allele is lethal both in homozygote and heterozygote
○ transmitted if lethality phenotype occurs after reproductive age
○ usually lasts one generation and not transmitted
○ Huntington’s disease – nervous system wastes away
Laws of Inheritance
● Mendel proposed that unit factors of heredity transmitted faithfully from generation to generation by
dissociation/reassociation of paired factors during gametogenesis and fertilization
○ gametogenesis – formation of sex cells or gametes in males (spermatogenesis) and
females (oogenesis)
Law of Dominance
● one trait conceals the presence of another in a heterozygote
Law of Segregation
● paired unit factors/genes must segregate equally into gametes such that offspring have equal
likelihood of inheriting either factor
● makes Punnett square accurate in predicting offspring of parents w/ known genotypes
Law of Independent Assortment
● genes do not influence each other
when sorting alleles into gametes →
every combination of alleles for every
gene is equally likely to occur
● illustrated thru dihybrid cross – cross
between two true-breeding parents
that express diff. traits
● meiosis I → different homologous
pairs line up in random orientation →
each gamete can contain any
combination of chromosomes → gene
combinations
Forked-Line Method
● used with more than 2 genes
Rules for Trihybrid Formation
● determine n, the number of heterozygous gene pairs (genes segregating two alleles each)
○ cross w/ AaBb and AaBb has n of 2, AABb and AABb has n of 1
Rule Heterozygous Gene Pairs
F1 gametes 2^n
F2 gametes 3^n
F2 phenotypes given dominant and recessive 2^n
Linked Genes
● segregation of alleles can be influenced thru linkage – genes located close to each other more likely
to be inherited as a pair
○ due to recombination, possible for 2 genes to behave independently
Epistasis
● sum of an individual’s phenotype controlled thru genes where every characteristic completely
controlled by a single gene → single
characteristics under influence of multiple
genes
● genes may function in synergistic or
opposite ways
● epistasis – interaction is antagonistic →
one gene masks expression of another
○ alleles masked are hypostatic to
epistatic alleles → gene pathway
where expression is dependent on
function of a gene that precedes or
follows in pathway