Biology 3 Mendelian Inheritance (CH 7)

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1 Biology 3 Mendelian Inheritance (CH 7) Dr. Terence Lee Genetics Genetics 1

2 2.20 DNA holds the genetic information to build an organism RNA is a universal translator, reading DNA and directing protein production. 2

3 Genetics INHERITANCE OF GENES Maternal chromosome pair Maternal gamete: egg Gene Paternal chromosome pair Paternal gamete: sperm Humans have 23 pairs of chromosomes (46 individual chromosomes) and, thus, two copies of each gene. Each human gamete has just one copy of each chromosome and, thus, one copy of each gene. Gametes unite during fertilization. Child inherits one set of chromosomes from each parent and, thus, two copies of each gene. FISH ODOR SYNDROME Egg Normal version of FMO3 gene Sperm Defective version of the FMO3 gene, responsible for fish odor syndrome Gametes unite during fertilization. Genes for FMO3 Child inherits one copy of the defective version of the FMO3 gene. The child is a silent carrier and will not have fish odor syndrome. If two copies of the defective version of FMO3 were present, the child would develop fish odor syndrome. 3

4 Genetics Alleles are found on homologous chromosomes. Homologous Chromosomes Homologous Chromosomes 4

5 Genotypes vs. Phenotypes genotype phenotype The genotype of an organism describes the combination of alleles present. Example: earlobes E = allele for free earlobe e = allele for attached earlobe Three combinations in diploid cell: EE, ee, and Ee These are genotypes These are phenotypes Genotypes vs. Phenotypes Allele Symbols E = free e = attached Genotype Phenotype EE Free earlobes Ee Free earlobes ee Attached earlobes How do the genotypes determine the phenotype? 5

6 Dominant vs. Recessive Allele Symbols E = dominant e = recessive Genotype EE Ee ee Phenotype Free earlobes Free earlobes Attached earlobes The dominant allele masks the recessive allele in the phenotype The recessive allele only manifests in the absence of the dominant allele Homozygous dominant Heterozygous Homozygous recessive More on Alleles Genotype EE Ee ee Phenotype Free earlobes Free earlobes Attached earlobes Homozygous refers to the genotype having two identical alleles for a trait. Heterozygous refers to the genotype having different alleles for a trait. Punnett Square Ee x Ee EE x EE ee x ee E e E EE Ee e Ee ee E E E E EE EE EE EE e e e ee ee e ee ee 6

7 Genotype (diploid) The Law of Segregation Fertilization Gamete Genotype (haploid) Probability EE E E=100% Ee E or e E=50%, e=50% ee e e=100% Fertilization Gametes from One parent E e E e EE Ee Ee ee Possible Offspring Genotypes Gametes from other parent What are the possible outcomes if Ee and Ee were mated? Fertilization E e E e EE Ee Ee ee Offspring: 25% are EE 50% are Ee 25% are ee 7

8 History of DNA Gregor Mendel did not know about DNA. He was still able to study inheritance using the pea plant. DOMINANT AND RECESSIVE TRAITS 1 Mendel crossed true-breeding purple-flower plants with truebreeding whiteflower plants. True-breeding purple-flower plant True-breeding white-flower plant The purple-colored flower is the dominant trait, while the whitecolored flower is a recessive trait. All offspring have purple flowers. 2 Then, Mendel crossed two of the purple-flower offspring. 8

9 DOMINANT AND RECESSIVE TRAITS The purple-colored flower is the dominant trait, while the whitecolored flower is a recessive trait. All offspring have purple flowers. 2 Then, Mendel crossed two of the purpleflower offspring. Most offspring have purple flowers, but some have white flowers. The recessive trait for the white-colored flower must have been lurking in the previous generation, even though it is not visible. Mendelian Genetics Example: Purple and White flowers Possible Genotypes Phenotype Possible Sex Cells PP = homozygous Purple 100% P Pp = heterozygous Purple 50% P, 50% p pp = homozygous white 100% p Allele Symbols P = Purple p = white Mendelian Genetics P P p Pp Pp p Pp Pp Generation Genotype P 0 Parent PP x pp F 1 Offspring Pp Mendel s First Cross Cross pure bred with pure bred Homozygous purple x homozygous white 9

10 Mendelian Genetics Mendel s First Cross F 1 Genotype 100% Pp Phenotype 100% Purple P P p Pp Pp p Pp Pp Allele Symbols P = Purple p = white Mendelian Genetics Mendel s Second Cross Cross F1 with each other Pp x Pp Results for F 2 Genotype 25% PP 50% Pp 25% pp Phenotype 75% purple 25% white P p P PP Pp p Pp Pp Allele Symbols P = Purple p = white Mendelian Genetics Mendel s crossing experiment demonstrates two things: 1. Law of Dominance dominant allele masks the recessive allele 2. Law of Segregation alleles retain their individuality in diploid organisms by separating and moving to different gametes No blending 10

11 PUNNETT SQUARE: ALBINISM A Punnett square is a useful tool for determining the possible outcomes of a cross between two individuals. Cross 1 MOTHER albino homozygous aa FATHER pigmented homozygous AA A a GAMETES a GAMETES A OFFSPRING Genotype Phenotype All heterozygous All pigmented Cross 2 MOTHER pigmented heterozygous FATHER pigmented heterozygous A A GAMETES a GAMETES AA a aa OFFSPRING Genotype Phenotype 1/4 homozygous dominant AA 3/4 pigmented 2/4 heterozygous 1/4 homozygous recessive aa 1/4 albino GENETICS AND PROBABILITY IF The mother is albino, and the father is heterozygous aa 100% 50% a a A a THEN There is a 100% chance that the mother s egg will carry the recessive a allele and a 50% chance that a sperm will carry the recessive a allele Multiply the two components together to determine the overall probability. = AND 0.5 or 50% chance the offspring will be albino. aa 11

12 TAY-SACHS AND PROBABILITY IF Parents are heterozygous for Tay-Sachs Tt Tt 50% 50% THEN There is a 50% chance that a gamete will carry the recessive t allele T t T t = Multiply the two components together to determine the overall probability. AND 0.25 or 25% chance the child will be homozygous for Tay-Sachs. tt PEDIGREE A pedigree is a useful tool to document a trait of interest across multiple generations of family members. Grandfather Grandmother Grandfather Grandmother Aunt Uncle Father Mother Uncle Aunt First cousin First cousin Sister Me Sister Female exhibiting trait of interest Female not exhibiting trait Male exhibiting trait of interest Male not exhibiting trait Incomplete Dominance Incomplete dominance is when the heterozygote is an intermediate between the two homozygotes and appears to be blended. 12

13 INCOMPLETE DOMINANCE: SNAPDRAGONS Incomplete dominance occurs when a heterozygote exhibits an intermediate phenotype between the two homozygotes. Cross 1 MOTHER white-flower homozygous C W C W The superscript W represents the allele that produces no pigment (white flower). The superscript R represents the allele that produces pigment (red flower). FATHER red-flower homozygous C R C R C R C W GAMETES C W GAMETES C W C R C W C R C R C W C R C W C R OFFSPRING Genotype Phenotype All heterozygous C W C R All pink flowers INCOMPLETE DOMINANCE: SNAPDRAGONS Cross 2 MOTHER pink-flower heterozygous C W C R FATHER pink-flower heterozygous C W C R C W C W GAMETES C R GAMETES C W C W C W C R C R C W C R C R C R OFFSPRING Genotype Phenotype 1/4 homozygous C R C R 1/4 red flowers 2/4 heterozygous C W C R 2/4 red flowers 1/4 homozygous C W C W 1/4 white flowers In codominance, both alleles are expressed in the heterozygote. Example: horse coat color. Co-dominance 13

14 Blood type is an example of Co-dominance. Antigens are chemicals on the surface of some cells. They act as signposts that tell the immune system whether the cell belongs in the body. Antibodies are immune system molecules that attack cells with foreign antigens. BLOOD TYPE, ANTIGENS, AND ANTIBODIES Type A Type B Type AB Type O A antigens B antibodies B antigens A antibodies A and B antigens Neither A nor B antibodies Neither A nor B antigens A and B antibodies Law of Independent Assortment The Law of Independent Assortment states that alleles of one characteristic separate independently of the alleles of another. Law of Independent Assortment Example: earlobes and hair color Must be genes on different chromosomes. Genotypes Phenotype EE Free earlobe Ee Free earlobe ee Attached earlobe E = free earlobe, e = attached earlobe Genotype Phenotype HH Dark hair Hh Dark hair hh Light hair H = dark hair, h = light hair 14

15 Law of Independent Assortment Example: The father and mother both have free earlobes and dark hair What are the possible offspring genotypes and phenotypes when two heterozygous parents are crossed? Law of Independent Assortment What are the genotypes of the heterozygous parents? Phenotype free earlobes and dark hair Genotype Ee and Hh or EeHh Cross two heterozygous parents: EeHh x EeHh Law of Independent Assortment EH Eh eh eh EH Eh eh eh What are the possible gametes from EeHh x EeHh? 15

16 Law of Independent Assortment Setup the Punnett Square for EeHhx EeHh EH Eh eh eh EH EEHH EEHh EeHH EeHh Eh EEHh EEHh EeHh Eehh eh EeHH EeHh eehh eehh eh EeHh Eehh eehh eehh Law of Independent Assortment genotype Free Earlobes and Dark Hair Free Earlobes and Light Hair Attached Earlobes and Dark Hair Attached Earlobes and Light Hair 1 EEHH 1 EEhh 1 eehh 1 eehh 2 EEHh 2 Eehh 2 eehh 2 EeHH 4 - EeHh 9/16 3/16 3/16 1/16 Phenotype 16

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