Chapter 14 Mendel and the Gene

Mendel’s Discoveries

Character - a heritable feature

Trait - each variant for a character

True-breeding - when the plants self-pollinate all their offspring are of the same variety

Hybridization - the mating or crossing of two varieties (Fig 14.2)

Monohybrid cross - a cross that tracks the inheritance of a single trait (Fig 14.1)

P generation - parental, true breeding parents

F1 generation - first filial, hybrid offspring

F2 generation - second filial, hybrid offspring of the F1 generation

Mendel’s Principals

Law of Segregation

Law of Independent Assortment

Law of Segregation (Fig 14.4)

Alternate versions of genes account for variations in inherited characters

Alleles - alternate versions of genes (Fig 14.3)

For each character, an organism inherits two alleles, one from each parent

If the two alleles differ, then one, the dominant allele, is fully expressed in the organism’s appearance; the other, the recessive allele, has no noticeable effect on the organism’s appearance

The two alleles for each character segregate during gamete production

Genetic Vocabulary

Homozygous - has a pair of identical alleles for a character

Heterozygous - has two different alleles for a character (Fig 14.6)

Phenotype - an organism’s appearance (Fig 14.5)

Genotype - an organism’s genetic makeup

Law of Independent Assortment

Dihybrid cross - the mating of parental varieties differing in two characters (Fig 14.7)

Types of Dominance

Complete Dominance - the phenotypes of the heterozygotes and the dominant homozygote are indistinguishable

Incomplete Dominance - the F1 hybrids have an appearance somewhere in between the phenotypes of the two parental varieties (Fig 14.9)

Codominance - alleles separately manifest in the phenotype

Dominance/Recessiveness Relationships

They range from complete dominance, though various degrees of incomplete dominance, to codominance

They reflect the mechanism by which specific alleles are expressed in phenotype and do not involve the ability of a one allele to subdue another at the level of the DNA

They do not determine the relative abundance of alleles in the population

Multiple alleles (Fig 14.10)

Pleiotropy - the ability of a gene to affect an organism in many ways

Epistasis - a gene at one locus alters the phenotypic expression of a gene at a second locus (Fig 14.11)

Polygenic inheritance - an additive effect of two or more genes on a single phenotypic character (Fig 14.12)

Quantitative characters - characters that vary in the population along a continuum

Nature vs Nurture

Norm of Reaction - a range of phenotypic possibilities over which there may be variation due to environmental influence

Multifactorial characters - many factors, both genetic and environmental, collectively influence phenotype

Mendelian Inheritance in Humans

Pedigree - a family history for a particular trait assembled into a family tree describing the interrelationships of parents and children across the generations (Fig 14.14)

Carriers - heterozygotes who are phenotypically normal but can transmit the recessive allele to their offspring

Recessively Inherited Disorders

Cystic Fibrosis

Tay-Sachs disease

Sickle-cell disease (Fig 14.15)

Dominantly Inherited Disorders

Achondroplasia

Huntington’s disease (Fig 14.16)

Multifactorial Disorders

Heart disease

Diabetes

Alcoholism

Schizophrenia

Alzheimer’s disease

Genetic Testing

Carrier recognition

Fetus Testing (Fig 14.17)

Amniocentesis

Chorionic villi sampling (CVS)

Newborn screening