Mendelisme Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings What is Inheritance? • Passing on genetic information from parents to offspring • Humans have 23 pairs of chromosomes (46 total) – 1 of each pair is from one parent and the other is from the other parent Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Chromosomes • Long strands of DNA that carry the genetic information on building and sustaining a living human being. • Each chromosome contains many genes Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings What is a Gene? • A segment of a chromosome that containing the code for a single protein (enzyme) - The enzyme causes a chemical reaction that allows a trait to be expressed. ie. Production of a pigment Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Alleles • Alleles are alternate forms of a gene – Homozygous individuals have two identical alleles for a trait – Heterozygous individuals have two different alleles for a trait Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Gregor Mendel (1822 - 1884) Mendel was a monk who was trained in both biology and mathematics. He used his knowledge of biology to do test crosses on garden peas and count the progeny. He used his knowledge of mathematics to manipulate his data and derive his “postulates” for inheritance. Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings In an Abbey Garden • Mendel studied garden peas – These plant are easily manipulated – These plants can self-fertilize Stamen Carpel Figure 9.5 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings • Mendel carried out some crossfertilizations 1 Removed stamens from purple flower White Stamens Carpel Parents (P) 2 Transferred pollen from stamens of white flower to Purple carpel of purple flower 3 Pollinated carpel matured into pod 4 Planted seeds from pod Offspring (F1) Figure 9.6 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Mendel’s started with traits with homozygous alleles He called these true breeding plants Mendel’s plants showed simple dominance Presence of the dominant allele meant that the trait would be expressed whether homozygous or heterozygous For the recessive form of the trait, expression only occurs in the homozygous form Dominant alleles are shown as uppercase letters Recessive alleles are shown as lower case letters Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Mendel’s Principles of Segregation • Mendel performed many experiments • He tracked several characteristics in pea plants from which he formulated several hypotheses Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Dominant Flower color Purple Recessive Axial Terminal Seed color Yellow Green Round Recessive Pod shape Inflated Constricted Pod Color Green Yellow Stem length Tall White Flower position Seed shape Dominant Dwarf Wrinkled Figure 9.7 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Monohybrid Crosses • A monohybrid cross is a cross between parent plants that differ in only one characteristic P Generation (true-breeding parents) Purple flowers White flowers All plants have purple flowers F1 Generation Fertilization among F1 plants (F1 F1) F2 Generation 3/ of plants have purple flowers 4 (a) Mendel’s crosses tracking one characteristic (flower color) Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings 1/ of plants have white flowers 4 Figure 9.8a • Mendel developed four hypotheses from the monohybrid cross – There are alternative forms of genes, now called alleles – For each characteristic, each organism has two genes – Gametes carry only one allele for each inherited characteristic – Alleles can be dominant or recessive Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings An explanation of Mendel’s results, including a Punnett square Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Wild type traits are those most often seen in nature Selective breeding brings out selected alleles for a trait Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings • Phenotype – An organism’s physical traits – How does it look? • Genotype – An organism’s genetic makeup – What alleles are present? Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Mendel’s principle of segregation • Pairs of alleles segregate (separate) during gamete formation; the fusion of gametes at fertilization creates allele pairs again Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Mendel’s Principle of Independent Assortment • Two hypotheses for gene assortment in a dihybrid cross – Dependent assortment – Independent assortment Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Using a Testcross to Determine an Unknown Genotype • A testcross is a mating between – An individual of unknown genotype and – A homozygous recessive individual Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Family Pedigrees • Mendel’s principles apply to the inheritance of many human traits Freckles No freckles Widow’s peak Straight hairline Free earlobe Attached earlobe Figure 9.14 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings • A family pedigree – Shows the history of a trait in a family – Allows researchers to analyze human traits Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Human Disorders Controlled by a Single Gene • Many human traits – Show simple inheritance patterns – Are controlled by genes on autosomes Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Table 9.1 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Recessive Disorders • Most human genetic disorders are recessive • Individuals can be carriers of these diseases Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings Dominant Disorders • Some human genetic disorders are dominant – Achondroplasia is a form of dwarfism Figure 9.17 Copyright © 2004 Pearson Education, Inc. publishing as Benjamin Cummings