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BIOLOGY CONCEPTS & CONNECTIONS Fourth Edition Neil A. Campbell • Jane B. Reece • Lawrence G. Mitchell • Martha R. Taylor CHAPTER 9 Patterns of Inheritance Modules 9.1 – 9.10 From PowerPoint® Lectures for Biology: Concepts & Connections Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Purebreds and Mutts — A Difference of Heredity • Genetics is the science of heredity • These black Labrador puppies are purebred— their parents and grandparents were black Labs with very similar genetic makeups – Purebreds often suffer from serious genetic defects Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • The parents of these puppies were a mixture of different breeds – Their behavior and appearance is more varied as a result of their diverse genetic inheritance Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings MENDEL’S PRINCIPLES 9.1 The science of genetics has ancient roots • The science of heredity dates back to ancient attempts at selective breeding • Until the 20th century, however, many biologists erroneously believed that – characteristics acquired during lifetime could be passed on – characteristics of both parents blended irreversibly in their offspring Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.2 Experimental genetics began in an abbey garden • Modern genetics began with Gregor Mendel’s quantitative experiments with pea plants Stamen Carpel Figure 9.2A, B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Mendel crossed pea plants that differed in certain characteristics and traced the traits from generation to generation • This illustration shows his technique for cross-fertilization White 1 Removed stamens from purple flower Stamens Carpel PARENTS (P) 2 Transferred Purple pollen from stamens of white flower to carpel of purple flower 3 Pollinated carpel matured into pod 4 OFFSPRING (F1) Figure 9.2C Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Planted seeds from pod • Mendel studied seven pea characteristics FLOWER COLOR Purple White Axial Terminal SEED COLOR Yellow Green SEED SHAPE Round Wrinkled POD SHAPE Inflated Constricted POD COLOR Green Yellow STEM LENGTH Tall Dwarf FLOWER POSITION • He hypothesized that there are alternative forms of genes (although he did not use that term), the units that determine heredity Figure 9.2D Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.3 Mendel’s principle of segregation describes the inheritance of a single characteristic • From his experimental data, Mendel deduced that an organism has two genes (alleles) for each inherited characteristic – One characteristic comes from each parent Figure 9.3A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings P GENERATION (true-breeding parents) Purple flowers White flowers All plants have purple flowers F1 generation Fertilization among F1 plants (F1 x F1) F2 generation 3/ of plants have purple flowers 4 1/ 4 of plants have white flowers GENETIC MAKEUP (ALLELES) • A sperm or egg carries only one allele of each pair P PLANTS Gametes – The pairs of alleles separate when gametes form PP pp All P All p F1 PLANTS (hybrids) Gametes – This process describes Mendel’s law of segregation All Pp 1/ 2 1/ P P 2 p P Eggs Sperm PP F2 PLANTS – Alleles can be dominant or recessive Phenotypic ratio 3 purple : 1 white p p Pp Pp pp Genotypic ratio 1 PP : 2 Pp : 1 pp Figure 9.3B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.4 Homologous chromosomes bear the two alleles for each characteristic • Alternative forms of a gene (alleles) reside at the same locus on homologous chromosomes GENE LOCI P P a a B DOMINANT allele b RECESSIVE allele GENOTYPE: PP aa HOMOZYGOUS for the dominant allele HOMOZYGOUS for the recessive allele Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Bb HETEROZYGOUS Figure 9.4 9.5 The principle of independent assortment is revealed by tracking two characteristics at once • By looking at two characteristics at once, Mendel found that the alleles of a pair segregate independently of other allele pairs during gamete formation – This is known as the principle of independent assortment Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings HYPOTHESIS: DEPENDENT ASSORTMENT RRYY P GENERATION rryy Gametes RRYY ry RY rryy Gametes ry RY RrYy F1 GENERATION Eggs 1/ HYPOTHESIS: INDEPENDENT ASSORTMENT 2 1/ 2 RY 1/ 2 RrYy RY 1/ ry Sperm 2 1/ ry 1/ F2 GENERATION 1/ Eggs 1/ 4 4 4 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings RY 1/ 4 RrYy rY 1/ RrYY rrYY rrYy Figure 9.5A 4 RRYY RRYy ACTUAL RESULTS SUPPORT HYPOTHESIS 1/ RrYY RrYy Actual results contradict hypothesis RY rY Ry ry 4 RrYy RrYy RRyy Rryy rryy Ry 1/ RrYy rrYy Rryy 4 4 ry 9/ 16 3/ 16 3/ 16 1/ 16 Yellow round Green round Yellow wrinkled Yellow wrinkled • Independent assortment of two genes in the Labrador retriever Blind PHENOTYPES GENOTYPES Black coat, normal vision B_N_ Black coat, blind (PRA) B_nn MATING OF HETEROZYOTES (black, normal vision) PHENOTYPIC RATIO OF OFFSPRING 9 black coat, normal vision BbNn 3 black coat, blind (PRA) Figure 9.5B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Blind Chocolate coat, normal vision bbN_ Chocolate coat, blind (PRA) bbnn BbNn 3 chocolate coat, normal vision 1 chocolate coat, blind (PRA) 9.6 Geneticists use the testcross to determine unknown genotypes • The offspring of a testcross often reveal the genotype of an individual when it is unknown TESTCROSS: GENOTYPES B_ bb Two possibilities for the black dog: BB b OFFSPRING Bb B GAMETES Figure 9.6 or Bb All black Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings B b Bb b bb 1 black : 1 chocolate 9.7 Mendel’s principles reflect the rules of probability • Inheritance follows the rules of probability – The rule of multiplication and the rule of addition can be used to determine the probability of certain events occurring F1 GENOTYPES Bb female Bb male Formation of eggs Formation of sperm 1/ B 1/ 2 B 2 B B 1/ b 1/ 1/ 2 b B b 1/ 4 b b 4 B 1/ 2 4 b F2 GENOTYPES 1/ 4 Figure 9.7 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.8 Connection: Genetic traits in humans can be tracked through family pedigrees • The inheritance of many human traits follows Mendel’s principles and the rules of probability Figure 9.8A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Family pedigrees are used to determine patterns of inheritance and individual genotypes Dd Joshua Lambert Dd Abigail Linnell D_? Abigail Lambert D_? John Eddy dd Jonathan Lambert Dd Dd dd D_? Hepzibah Daggett Dd Elizabeth Eddy Dd Dd Dd dd Female Male Deaf Figure 9.8B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Hearing 9.9 Connection: Many inherited disorders in humans are controlled by a single gene • Most such disorders are caused by autosomal recessive alleles – Examples: cystic fibrosis, sickle-cell disease Normal Dd PARENTS Normal Dd D D Eggs Sperm DD Normal d OFFSPRING d Dd Normal (carrier) Dd Normal (carrier) dd Deaf Figure 9.9A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • A few are caused by dominant alleles – Examples: achondroplasia, Huntington’s disease Figure 9.9B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Table 9.9 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.10 Connection: Fetal testing can spot many inherited disorders early in pregnancy • Karyotyping and biochemical tests of fetal cells and molecules can help people make reproductive decisions – Fetal cells can be obtained through amniocentesis Amniotic fluid Amniotic fluid withdrawn Centrifugation Fluid Fetal cells Fetus (14-20 weeks) Biochemical tests Placenta Figure 9.10A Uterus Cervix Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Several weeks later Cell culture Karyotyping • Chorionic villus sampling is another procedure that obtains fetal cells for karyotyping Fetus (10-12 weeks) Several hours later Placenta Suction Chorionic villi Fetal cells (from chorionic villi) Karyotyping Some biochemical tests Figure 9.10B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Examination of the fetus with ultrasound is another helpful technique Figure 9.10C, D Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings