Mendelian Genetics

Definition of terms:
Genetics – the study of heredity and variation
Heredity – the transmission of traits from one generation to another, from parents to offspring
Variation – any difference existing between individuals of the same species
Chromosome – rod-shaped body in the nucleus of eukaryotes and prokaryotes that contains
the hereditary units or genes
Gene – the unit of heredity occupying a particular location on the chromosome and passed on
to offspring
Locus – the location of a gene on a chromosome
Diploid – the 2n number of chromosomes; twice the number of chromosomes found in
gametes
Haploid – the n number of chromosomes; half the diploid number
F1 generation – first filial generation; the first-generation offspring of a genetic cross that has at
least two generations
F2 generation – second filial generation; the second-generation offspring of a genetic cross
Homozygous – a pair of similar or like genes for any one character
Heterozygous – a pair of contrasting traits of two kinds of genes
Genotype – the particular genes of an individual that determine a specific trait
Phenotype – the outward appearance of an organism, caused by genetic and environmental
influences
Allele – one of two or more alternative states of a gene
Dominant allele – hereditary factor that expresses itself when then the genotype is
heterozygous
Recessive allele – hereditary factor that expresses itself only when the genotype is homozygous
Hybrid – the offspring of two parents that differ in one or more heritable characters
Monohybrid cross – cross in which the parents differ in one pair of alternative characters
Dihybrid cross – cross in which the parents differ in two pairs of alternative characters
Homologous chromosomes – a pair of chromosomes that have the same shape and contain
genes for the same traits
Mutation – a sudden change in the genetic make-up

Gregor Johann Mendel

- an Austrian Augustinian monk; born in 1822 to peasant parents
- studied science and mathematics at the University of Vienna where he failed an exam
for a teaching certificate
- taught natural science at a local technical school
- formulate certain laws of heredity in early 1860s
Before Mendel
- both sexes contribute equally to a new individual
- a cross between plants with red flowers and plants with white flowers would yield only plants
with pink flowers

The Work of Mendel

Mendel’s Experiments
- he chose to work with the garden pea, Pisum sativum; this plant was easy to cultivate and had
a short generation time
- he chose 22 varieties of peas
- when these varieties self-pollinated, the offspring were like the parent plants and like each
other
- studied the inheritance of relatively distinguishable traits – seed shape, seed color, and flower
color

Mendel’s Results and Findings

- When he crossed purple-flowered plants with white-flowered plants, the F1 generation
offspring all had purple flowers
- When F1 offspring mature and self-pollinate, some F2 offspring had white flowers
- For each pair of traits crossed, one alternative was not expressed in the F1 hybrids, although it
reappeared in some F2 individuals

Mendel’s Interpretation
- Parents do not transmit their physiological traits or form directly to their offspring, rather they
transmit distinct information about the traits, these factors later act in the offspring to produce
the trait
- Each parent contains two factors, which may or may not be the same (homozygous or
heterozygous)
- The two alleles, one contributed by the male and the one by the female gamete remain
distinct; alleles do not blend with one another or become altered in any other way

Mendel’s Conclusion
1. Law of Segregation
“Each organism contains two factors for each trait, and the factors segregate during the
formation of gametes so that each gamete contains only one factor for each trait. When
fertilization occurs, the new organism has two factors for each trait, one from each parent.”

2. Law of Independent Assortment

“Members of one pair of factors segregate (assort) independently of members of another pair
of factors. Therefore, all possible combinations of factors can occur in the gametes.”

Testcross
- Used to determine if an individual expressing the dominant trait is homozygous or
heterozygous
Punnett Square
- a “checkboard” grid designed to determine all possible genotypes produced by a given cross
- introduced by geneticist, Reginald Punnett in early 1900s
Beyond Mendel
Incomplete Dominance
- a pattern of inheritance in which the offspring shows characteristics intermediate between
two extreme parental characteristics
Multiple alleles
- a gene with three or more alleles
Polygenic Inheritance
- means that a trait is controlled by several genes