BackMendelian Genetics: Principles and Applications
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Mendelian Genetics
Hybridization and Generations
Mendel's experiments with pea plants established foundational principles of inheritance. He mated two contrasting, true-breeding varieties, a process known as hybridization.
P Generation: The true-breeding parental generation.
F1 Generation: The hybrid offspring of the P generation.
F2 Generation: Produced when F1 individuals self-pollinate or cross-pollinate with other hybrids.
Genes, Alleles, and Chromosomes
Genes are units of heredity, and their alternative versions are called alleles. Each gene resides at a specific locus on a chromosome.
Alleles: Alternative versions of a gene that account for variations in inherited characters.
Locus: The specific location of a gene on a chromosome.
Dominance and Segregation
When two alleles at a locus differ, the dominant allele determines the organism’s appearance, while the recessive allele has no noticeable effect.
Law of Segregation: The two alleles for a heritable character separate during gamete formation and end up in different gametes.
This segregation corresponds to the distribution of homologous chromosomes during meiosis.
Punnett Squares and Genetic Terminology
Punnett squares are used to predict possible combinations of sperm and egg.
Homozygote: An organism with two identical alleles for a gene (homozygous).
Heterozygote: An organism with two different alleles for a gene (heterozygous).
Heterozygotes are not true-breeding.
Phenotype vs. Genotype
An organism’s traits (phenotype) do not always reveal its genetic composition (genotype).
Phenotype: Physical appearance.
Genotype: Genetic makeup.
Example: PP and Pp pea plants both have purple flowers (same phenotype) but different genotypes.
Testcross
A testcross is used to determine the genotype of an individual with the dominant phenotype by breeding it with a homozygous recessive individual.
If any offspring display the recessive phenotype, the mystery parent must be heterozygous.
Monohybrid and Dihybrid Crosses
Monohybrids are heterozygous for one character. A cross between monohybrids is a monohybrid cross. Mendel also used dihybrid crosses to develop the law of independent assortment.
Law of Independent Assortment: Each pair of alleles segregates independently during gamete formation.
This law applies only to genes on different, nonhomologous chromosomes or those far apart on the same chromosome.
Genes located near each other on the same chromosome tend to be inherited together.
Probability Rules in Genetics
Probability rules help predict genetic outcomes.
Multiplication Rule: The probability that two or more independent events will occur together is the product of their individual probabilities.
Addition Rule: The probability that any one of two or more mutually exclusive events will occur is the sum of their individual probabilities.
Types of Dominance
Dominance relationships between alleles affect phenotypes.
Complete Dominance: Phenotypes of the heterozygote and dominant homozygote are identical.
Incomplete Dominance: The phenotype of the heterozygote is intermediate between the two parental varieties.
Codominance: Two dominant alleles affect the phenotype in separate, distinguishable ways.
Pleiotropy and Epistasis
Some genes affect multiple traits, and some genes can influence the expression of others.
Pleiotropy: A single gene has multiple phenotypic effects. Example: alleles responsible for cystic fibrosis and sickle-cell disease.
Epistasis: Expression of a gene at one locus alters the phenotypic expression of a gene at a second locus.
Example: In Labrador retrievers, coat color depends on two genes—one for pigment color (B/b) and one for pigment deposition (E/e).
Polygenic Inheritance
Traits controlled by multiple genes show quantitative variation.
Quantitative Characters: Traits that vary along a continuum, usually indicating polygenic inheritance.
Example: Over 180 genes affect height; skin pigmentation is controlled by many genes.
Pedigrees and Human Genetics
Geneticists use pedigrees to analyze inheritance patterns in humans.
Pedigree: A family tree describing the inheritance of a trait across generations.
Recessively Inherited Disorders: Show up only in individuals homozygous for the allele.
Carriers: Heterozygous individuals who carry the recessive allele but are phenotypically normal.
Most individuals with recessive disorders are born to carrier parents.
Albinism: A recessive condition characterized by lack of pigmentation in skin and hair.
Summary Table: Types of Dominance
Type | Phenotype in Heterozygote | Example |
|---|---|---|
Complete Dominance | Same as dominant homozygote | Purple flower in pea plants |
Incomplete Dominance | Intermediate between parents | Red and white snapdragons produce pink |
Codominance | Both alleles expressed distinctly | AB blood type in humans |
Summary Table: Genetic Terms
Term | Definition |
|---|---|
Allele | Alternative version of a gene |
Locus | Specific location of a gene on a chromosome |
Homozygote | Individual with two identical alleles for a gene |
Heterozygote | Individual with two different alleles for a gene |
Phenotype | Physical appearance |
Genotype | Genetic makeup |