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Chapter 9 Patterns of Inheritance PowerPoint Lectures for Biology: Concepts and Connections, Fifth Edition – Campbell, Reece, Taylor, and Simon Lectures by Chris Romero Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings The historical roots of genetics: •Early 19th century: traits from mom and dad blend like paints to form kid’s traits ______________ (1840’s) : “Father of modern genetics” • Mendel crossed pea plants that differed in certain characteristics (__________ ) and traced from generation to generation; used a mathematical approach • Why did he choose pea plants? • Crossing of traits: Self fertilize (____________ ) – cross pollen and egg from same parent plant to get identical offspring Cross Fertilize (__________ ) – cross pollen from one parent plant with the egg of a different parent plant Gregor mendel Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Parents (P) • ____ generation is truebreeding – Parent generation – _____ generation = Hybrid offspring of P (parents) White – _____ generation = offspring of F1 plants crossed – _____ generation = offspring of F2 plants crossed And so on… Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Purple Offspring (F1) • Mendel hypothesized that there are alternative forms of factors (________ ) = units that determine heritable traits Flower color Purple White Axial Terminal Seed color Yellow Green Seed shape Round Wrinkled Flower position Pod shape Inflated Constricted Pod color Green Yellow Stem length Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Tall Dwarf From his experimental data, Mendel deduced that an organism has two genes (___________ ) for each inherited characteristic • For each characteristic (trait), an organism ____________________________, one from each parent. Think of TRAITS as _________________ and ALLELES as _______________ within each category! Examples: P generation (true-breeding parents) Purple flowers White flowers •Flower Color (trait) F1 generation All plants have purple flowers •Purple or White (alleles) Fertilization among F1 plants (F1 F1) F2 generation 3 Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings 4 of plants have purple flowers 1 4 of plants have white flowers __________ = physical appearance of the allele for a specific trait (purple/white flower for flower color trait) _________ = genetic makeup the alleles that represent the phenotype (one dominant, one recessive; or 2 dominant alleles and 2 recessives) DNA from the Beginning Animations Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings • If the 2 alleles of an inherited pair are different, then one determines the organism’s appearance and is called the _____________ allele. (will usually show up more often!) – The other allele has no noticeable effect on the organism’s appearance and is called the _______________ allele. (Is present but does not show up in the appearance) * If dominant allele is present, it takes over and outweighs the recessive! Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Dominant and Recessive alleles: In a genetic cross, CAPITAL letters are used to represent DOMINANT alleles and lower case letters represent the recessive alleles. – MUST USE SAME LETTER FOR EACH TRAIT! (Doesn’t matter the letter you choose!) Example: Flower Color (trait) T = purple, t = white Pea Color Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings R=yellow, r =green HOMOZYGOUS and HETEROZYGOUS •When 2 of the SAME ALLELES are present, it is HOMOZYGOUS for that trait. With homozygous, you must clarify hh = homozygous ____________ which alleleeither Dominant •When 2 DIFFERENT alleles are present, it isortermed recessive! HH = homozygous ___________ HETEROZYGOUS for the trait. • Hh= __________________ Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings •We can look at the alleles from each parent to determine the probability of those alleles being passed on to offspring. PUNNETT SQUARE: Shows a genetic mixing (cross) of alleles from both parents for specific traits. Punnett Square are use to ______________ __________________ and see inheritance patterns for specific traits! Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Trait= Flower Color H =purple Parent #2 H h = white H h Hh Hh PARENT #1 h Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Hh Hh Trait= Flower Color * If Dominant allele is present, it takes over and outweighs the recessive! H =purple h = white H Genotype =genetic makeup (represented by letters!) Parent 1 = hh homozygous recessive H h Hh Parent 2 = HH homozygous dominant Offspring= 100% Hh Heterozygous Phenotype =physical appearance (what the letters represent!) Parent 1 = white Hh Probability of one offspring from parent cross! h Parent 2 = purple Offspring= 100% purple Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Hh Hh LET’S PRACTICE!!! Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Homologous chromosomes bear the two alleles for each characteristic – Reside at the same __________ (point) on homologous chromosomes Dominant allele Gene loci P P a B a b Recessive allele Genotype: PP Homozygous for the dominant allele aa Homozygous for the recessive allele Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Bb Heterozygous Mendel’s law of segregation Predicts that allele pairs from each parent separate (______________) from each other during the production of gametes (sperm/eggs) P plants Genetic makeup (alleles) PP pp All P All p Gametes F1 plants (hybrids) All Pp 1 P 2 Gametes 1 p 2 Sperm P p F2 plants Phenotypic ratio 3 purple : 1 white P PP Pp p Pp pp Eggs Genotypic ratio 1 PP: 2 Pp: 1 pp Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Mendel’s law of independent assortment – States that alleles of a pair __________________ _________________ of other allele pairs during gamete formation Hypothesis: Independent assortment Hypothesis: Dependent assortment RRYY P generation Gametes rryy RRYY ry RY rryy Gametes RY ry RrYy RrYy F1 generation Sperm Sperm 1 2 RY 1 2 ry 1 4 1 RY 2 F2 generation Eggs 1 2 1 4 1 4 Eggs ry 1 4 Actual results contradict hypothesis Figure 9.5 A Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings 1 4 RY 1 4 ry 1 4 RY 1 4 ry RY RRYY RrYY RRYy RrYY rrYY RrYy RrYy ry rrYy Ry RRYy RrYy RRyy Rryy RrYy rrYy Rryy rryy ry Actual results support hypothesis 9 16 Yellow round 3 16 Green round 3 16 1 16 Yellow wrinkled Green wrinkled 9.8 Genetic traits in humans can be tracked through family ______________________. Dd Joshua Lambert D? John Eddy Dd Abigail Linnell D? Hepzibah Daggett Female dd Jonathan Lambert D? Abigail Lambert Dd Elizabeth Eddy Male Mating Dd Dd dd Dd Dd Dd dd Female Male Deaf Hearing Figure 9.8 B Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Offspring Recessive Disorders- Most human genetic disorders are recessive Parents Normal Dd Normal Dd Sperm D D Offspring DD Normal d Dd Normal (carrier) Eggs d Dd Normal (carrier) Figure 9.9 A Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings dd Deaf Dominant Disorders- Some human genetic disorders are dominant Parents Dwarf Dd Normal dd Sperm Achondroplasia – cause of dwarfism D d Offspring Dd Dwarf d dd Normal Eggs d Figure 9.9 B Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Dd Dwarf dd Normal 9.10 New technologies can provide insight into genetic legacy Identifying Carriers • For an increasing number of genetic disorders, tests are available that can distinguish carriers of genetic disorders and can provide insight for reproductive decisions Fetal Testing: ____________________ and ______________________________________________ (CVS) allow doctors to remove fetal cells that can be tested for genetic abnormalities Fetal Imaging- _________________________ uses sound waves to produce a picture of the fetus Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings NON-MENDELIAN GENETICS ALL OF THE FOLLOWING ARE EXCEPTIONS TO MENDEL’S RULES!!! •Mendel’s principles are valid for all sexually reproducing species, HOWEVER, genotype often does NOT dictate phenotype in the simple way his laws described. Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings • When an offspring’s phenotype is in between the phenotypes of its parent, it exhibits _________________________. P generation Red RR White rr r R Gametes F1 generation Pink Rr 1 2 Gametes R 1 2 r Sperm 1 2 F2 generation Figure 9.12 A Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings R 1 2 r 1 2 R Red RR Pink rR 1 2 r Pink Rr White rr Eggs • In a population, _________ _________(2 or more options) often exist for a single trait. Example: The ABO blood type in humans – Involves 3 alleles of a single gene – The alleles for A and B blood types are ____________________ and both are expressed the phenotype Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings • __________________ - a single gene can affect a phenotype in many ways Individual homozygous for sickle-cell allele Sickle-cell (abnormal) hemoglobin Abnormal hemoglobin crystallizes, causing red blood cells to become sickle-shaped Sickle cells Clumping of cells and clogging of small blood vessels Breakdown of red blood cells Physical weakness Impaired mental function Anemia Heart failure Paralysis Figure 9.14 Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Pain and fever Pneumonia and other infections Accumulation of sickled cells in spleen Brain damage Damage to other organs Rheumatism Spleen damage Kidney failure • _________________ inheritance- creates a multiple variations of phenotypes P generation aabbcc (very light) F1 generation AaBbCc 1 8 F2 generation AABBCC (very dark) 1 8 AaBbCc Sperm 1 1 1 8 8 8 1 8 1 8 1 8 1 8 1 8 Eggs 6 64 15 64 20 64 1 8 20 64 15 64 1 8 1 8 1 8 Figure 9.15 1 64 1 8 1 8 Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings 6 64 1 64 Skin color 15 64 6 64 1 64 THE CHROMOSOMAL BASIS OF MENDEL’S LAWS OF INHERITANCE All round yellow seeds (RrYy) F1 generation R r y Y R Y R r Y y Metaphase I of meiosis (alternative arrangements) r R Y y r Anaphase I of meiosis y r R r R Y y r R Y y Metaphase II of meiosis y Y Y y Y Gametes R R 1 4 Y y r 1 4 RY F2 generation r r 9 ry r 1 4 rY Fertilization among the F1 plants :3 Figure 9.18 Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings :3 :1 (See Figure 9.5A) y y Y R R 1 4 Ry • Certain genes are called _____________ GENES- tend to be inherited together because they reside close together on the same chromosome. Experiment Purple flower PpLI PpLI Observed offspring Phenotypes Long pollen Prediction (9:3:3:1) Purple long Purple round Red long Red round 215 71 71 24 284 21 21 55 Explanation: linked genes PL Parental diploid cell PpLI PI Meiosis Most gametes PL PI Fertilization Sperm PL Most offspring PI PL PL PL PI PI PI PL PI PL Eggs PI Figure 9.19 Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings 3 purple long : 1 red round Not accounted for: purple round and red long 9.20 Crossing over produces new combinations of alleles • Crossing over can separate linked alleleS producing gametes with recombinant chromosomes A B a b A b a B A B a b Tetrad Crossing over Gametes Figure 9.20 A Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings • ___________ __________: • Performed some of the early studies of crossing over using the fruit fly Drosophila melanogaster. Experiment Black body, vestigial wings Gray body, long wings (wild type) GgLI ggll Female Male Offspring Gray long Black vestigial Gray vestigial Black long 965 944 206 185 Parental phenotypes Recombinant phenotypes 391 recombinants Recombination frequency = Explanation GgLI (female) G L 2,300 total offspring G L g l g l g l g l G l g L Eggs ggll (male) g l Sperm G L g l G l g L g l g l g l g l Offspring Figure 9.20 C Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings = 0.17 or 17% SEX CHROMOSOMES AND SEX-LINKED GENES • In mammals, a male has one X chromosome and one Y chromosome and a female has two X chromosomes. • The Y chromosome has genes for the development of testes. • The _________________________ chromosome allows ovaries to develop. (male) 44 Parents’ + diploid XY cells 22 + X Figure 9.22 A Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings (female) 44 + XX 22 + Y Sperm 22 + X 44 + XX 44 + XY Offspring (diploid) Egg • The inheritance pattern of sex-linked genes is reflected in females and males. • A _________ receiving a single X-linked allele from his mother will have the disorder • A _________ has to receive the allele from both parents to be affected Female XR XR Male Female Xr Y XR Xr Eggs XR Y XR Xr XR Y Female XR Y XR Xr XR Figure 9.23 B Xr Y Sperm XR Y XR XR XR Y XR Xr Y XR Xr XR Y Xr Xr Xr Y Eggs Eggs R = red-eye allele r = white-eye allele Male Sperm Sperm Xr Male Xr Xr XR Figure 9.23 C Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings Xr Y Xr Figure 9.23 D Sex-Linked • Most sex-linked human disorders are due to __________ allele and are mostly seen in _______________. Examples: _____________________________ Queen victoria Albert Alice Louis Alexandra Figure 9.24 A Czar Nicholas II of Russia Figure 9.24 B Alexis Copyright © 2005 Pearson Education, Inc. Publishing as Benjamin Cummings