Chapter 11

Mendelian Genetics

Copyright 2010 Pearson Education Inc.

 Study

of

Transmission how is a genetic trait inherited Structure and function of genes process of expressin a gene, mechanisms of mutations.

Transmission

genetics

Trait or character
Characteristics of an individual
Internal or External

Genotype Phenotype

Visible Invisible

 1865

he reported his studies on Pisum sativum Results not acknowledged until late in the 19th century and early in the 20th century

 Ease

of growth Bears flowers and fruit in the same year a seed is planted Produces a large number of seeds True-breeding or pure breeding Contrasting traits

Reciprocal crosses

Principle of uniformity

 Alternative

traits are determined by particulate factors Particulate factors are transmitted from parents to offspring Particulate factors remain distinct after a cross (they do not blend)

Genes

Alleles distinct form of a gene They each specify a trait

 Particulate

factors in true breeding are the same whereas those in F1 are different
Homozygosity Heterozygosity

One

particulate factor masks the other

Dominance
S vs s

Reginald Punnett

All reciprocal

 Dominant

or wild type alleles encode for a normal product (protein) Recessive alleles usually encodes for a mutated gene which produces a partially functional or non-functional gene product

 The

factors for different pairs of traits assort independently of one another

27:9:9:9:3:3:3:1

 Published
Botanists

his results in 1866

Carl Correns maize and peas Hugo de Vries different plant species Erich von Tschermark peas

They

set awareness about the laws of inheritance and set forth research on gene structure and function Zoologists

William Bateson fowl 1902

Simple dominant trait

Proband affected individual through whom the pedigree is discovered

Result from loss-offunction mutations or modified function of a gene product

 Most

affected individuals have two normal parents (heterozygotes) Mating of two normal heterozygotes should produce a 3:1 ratio (normal:recessive) The trait usually skips generations Matings of two affected individuals bears children with a 100% chance of expressing the trait

Result from gain-of-function mutations that result in gene products with new functions
Gene FGFR3 fibroblast growth factor receptor Individuals suffering the condition are heterozygotes

 Every

affected person in the pedigree must have at least one affected parent The trait usually does not skip generations On average a heterozygote will transmit the mutant gene to half of his or her progeny