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PowerPoint® Lecture Slide Presentation by Robert J. Sullivan, Marist College Human Biology Concepts and Current Issues Second Edition MICHAEL D. JOHNSON CHAPTER 19 GENETICS AND INHERITANCE Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Alleles • Different forms of homologous genes: humans have 23 pairs of chromosomes • Homozygous: both alleles identical • Heterozygous: alleles different • Genotype: complete set of genes and alleles • Phenotype: observed physical and functional traits Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Punnett Squares Figure 19.2 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Patterns of Genetic Inheritance • Punnett square analysis: predicts patterns of inheritance • Mendel developed basic rules of inheritance • Law of segregation: reproductive cells carry only one copy of each gene • Law of independent assortment: genes for different traits are separated from each other independently during meiosis; applies in most cases Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Allelic Interactions • Genotype and environment affect phenotype • Dominant alleles: gene always expressed, even if heterozygous • Recessive alleles: two copies of gene needed to be expressed, must be homozygous • Incomplete dominance: heterozygote is an intermediate phenotype Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Allelic Interactions (cont.) • Codominance: both phenotypes equally expressed • Polygenic inheritance: multiple genes involved • Linked genes: may be inherited together if close on a chromosome Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Pedigree Chart: Inheritance Pattern for an X-linked Recessive Disease Figure 19.12 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Sex-Linked Inheritance: X and Y Chromosomes • Origin of sex chromosomes • Chance mutations • Y determines sex • Sex-linked genes located on sex chromosomes • Sex linked or X-linked inheritance • Characteristics: mostly males with disease, passed to sons by mother, father cannot pass the gene • Sex influenced traits: affected by presence of testosterone, estrogen Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Chromosomes May be Altered in Number and Structure • Nondisjunction during meiosis • Examples: • Down syndrome: trisomy 21 • Alterations of the number of sex chromosomes • XYY: double-Y syndrome • XXY: Klinefelter syndrome • XXX: trisomy-X syndrome • XO: Turner syndrome, no Y • Deletions and Translocations: alter chromosome structure Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Inherited Genetic Disorders • Mechanism • Most mutations usually involve recessive alleles • Phenylketonurid • Tay-Sachs Disease • Dominant lethal allele: Huntington Disease • Always expressed, though at midlife • Always lethal Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Genes and Behavior • Mechanism • Product from gene-specific proteins • Proteins have specific functions leading to phenotypes • Protein functions: hormones, enzymes, structural, neurotransmitters Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings. Modifying DNA • Recombinant DNA technology: cutting, splicing and copying DNA, polymerase chain reaction (PCR) • Genetic engineering • Microorganisms: factories for human proteins, vaccines, environmental applications • New plants for agriculture • New uses for domestic animals • Human gene therapy Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings.