MENDELIAN GENETICS Gregor Mendel: Hereditary Genetics • Three Principles: • Principle of Dominance • Some alleles are dominant, others are recessive • Principle of Segregation • Alleles are separate from one another; each gamete only carries a single copy of each gene • Principle of Independent Assortment • Genes for different traits segregate independently of one another during the formation of gametes (sperm/egg) • Video clip: Alleles & Genes Mendel and His Beloved Peas • Garden peas are: • Self-pollinating • Easy to experimentally cross-pollinate • Clear traits—pure purple, pure white, etc. • Trait: any single feature of an organism What Mendel Noticed: • P Generation (“Parent”) • F1 Generation (“First Filial”) (Kids) • “Short” trait disappears… Whoa! • F2 Generation (“Second Filial”) (Grandkids) • …then reappears! Did You Catch That? • Where did that short plant (trait) come from? Recessive Traits “Hide” Behind Dominant Traits • Sexual Organisms have two of each trait (homologous pairs) • One of each pair is passed on to offspring by each parent. (p265) Recessive Traits “Hide” Behind Dominant Traits PLANT HEIGHT • Different forms of the same trait are called alleles • What TRAIT is being studied in this experiment? “Tall” … and … “Short” • What are the TWO ALLELES (forms) of the trait being studied? Other Traits That Mendel Studied ALLELES ALLELES Try one • What trait is being studied? • What’s the dominant allele of the trait? • What’s the recessive allele of the trait? Note the Percentages 50:50 100:0 ~75:25 50 50 Short • In P Gen: ____% Tall, ____% 100 0 • In F1 Gen: ____% Tall, ____% Short ~75 ~25 Short • In F2 Gen: ____% Tall, ____% Mendel proposed that “Factors” segregate (separate) from pairs to be passed on to offspring, one from each parent! (p265-266) (Sound familiar?) (Sound familiar?) Homologous chromosomes split up in Anaphase I so that only one allele of each trait gets passed on in your gametes! The pair of alleles you have (for any trait) is called your GENOTYPE Example Trait: Nose Shape (Let us pretend that round nose is dominant to pointy nose) (usually, letters are used to represent alleles, upper case for dominant) n N • Alleles: ___ (dominant), ___ (recessive) NN Nn nn • Genotypes: ____, ____, ____ “Homozygous Dominant” “Heterozygous” “Homozygous Recessive” The pair of alleles you have (for any trait) is called your GENOTYPE Again! NN Nn nn • Genotypes: ____, ____, ____ This genotype is described as “Homozygous _______________ Dominant” ___________ (Purebred) This genotype is This genotype is described as described as “Heterozygous” “Homozygous _____________ _______________ (hybrid or carrier) Recessive” ___________ (Purebred) NN One from Mom One from Dad Each set of alleles is a homologous pair, one from Mom and one from Dad! What is this person’s genotype? • This is called your PHENOTYPE (an expressed feature you can see!) NN ________________ Homozygous Dominant What kind of nose do they have? Round? Or Pointy? Nn • Remember: Dominant overshadows recessive! ________________ Heterozygous What is this person’s PHENOTYPE? Round? Or Pointy? nn • Recessive alleles show only if no dominant is present! ________________ Homozygous Recessive What is this person’s phenotype? Round? Or Pointy? Another Example: • What’s the TRAIT? • What are the ALLELES? • Which is dominant? PP pp Pp Remember: Only one of each allele is passed on from each parent! • What is Mom’s genotype? Heterozygous • What is Dad’s genotype? Ova (either) Heterozygous GERM CELL Pp Pp Sperm (either) GERM CELL Let’s Look At the Offspring Probabilities Ova (either) • What if this egg meets this sperm? Sperm (either) What if this egg meets this sperm? What if this egg meets this sperm? What if this egg meets this sperm? What if this egg meets this sperm? This Is Called A Punnett Square • Punnett squares allow us to predict probabilities about offspring What percentages does this Punnett square predict? • How many 75% (3/4) Purple? ______ • How many White? ______ 25% (1/4) • How many homozygous dominant? 25% ___(1/4) • How many heterozygous? ______ 50% (2/4) • How many homozygous recessive? ___ 25% (1/4) 25% 25% 25% 25% What is the probability that this couple will have a baby with the “a” disease? • Healthy allelle = A • Disease allele = a 25% (1/4) What is the probability that this couple will have a baby who is a CARRIER for the “a” disease? • Healthy allelle = A • Disease allele = a 50% (2/4) A CARRIER is a heterozygote (he or she can “pass on” the trait but does not exhibit it) Your Turn! (For disease “A”): What if a homozygous dominant man marries a carrier woman? AA Aa ____ X ____ Dad Mom A a A AA Aa A AA Aa Offspring Genotype: - HD (AA) = ___% 50 - Het (Aa)= ___% 50 - HR (aa)= ___% 0 Offspring Phenotype: - Healthy* = ___% 100 - Disease = ___% 0 - *(Healthy) Carrier = 50 _____% One More Time! (For disease “A”): What if a carrier man marries a woman with the disease? Aa ____ X aa ____ Dad Mom a a A Aa Aa a aa aa Offspring Genotype: 0 - HD (AA) = ___% 50 - Het (Aa)= ___% 50 - HR (aa)= ___% Offspring Phenotype: - Healthy* = 50 ___% 50 - Disease = ___% - *(Healthy) Carrier = 50 _____%