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Mendel Genetics Chapter 14. Genetics. The study of heredity. Heredity. Transmission of traits One generation to another Inherited features are the building blocks of evolution. Historically. Blending of parental contributions Example: Tall parent + short parent Medium child.
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Genetics • The study of heredity
Heredity • Transmission of traits • One generation to another • Inherited features are the building blocks of evolution
Historically • Blending of parental contributions • Example: • Tall parent + short parent • Medium child
Problem • No outside genes • All parents traits blended • Over time all members of the species will look the same.
Variation • Differences in offspring
Vocabulary • Character: • Inheritable feature • Ex: color • Trait: • Alternate forms of the character • Purple or white
Vocabulary • True-breeding: • Produced same variety as the parent • P generation • Parental generation
Vocabulary • First filial generation (F1) • Offspring from the first cross • Second filial generation (F2) • Offspring from the second cross
Vocabulary • Alleles: • Alternate versions of the gene • Dominant: • Trait that is expressed • Recessive: • Trait that is not expressed or hidden
Vocabulary • Homozygous: • Pair of the same alleles • Heterozygous: • Pair of different alleles • Genotype: • Genetic make-up • Phenotype: • Appearance of organism
Vocabulary • Hybridization: • Crossing of parents that are not alike • Hybrids: • Offspring with two alleles for trait • Testcross: • Cross with a homozygous recessive individual • Determines genotype of an individual.
Vocabulary • Self-fertilization: • Fertilization can take place in plant if undisturbed. • Cross-fertilization: • Remove the male parts • Introduce pollen from another strain • Different traits
Vocabulary • Punnett square: • Diagram • Displays allele possibilities of fertilizations
Vocabulary • Monohybrid: • Individuals are heterozygous for one trait • Aa • Tt • Dihybrid: • Individuals are heterozygous for two traits • AaTt
Gregor Mendel • Austrian monk • Studied math & science • University of Vienna • Studied pea plants at the monastery
Why the pea?? • 1. Has been studied • Able to produce hybrid peas • 2. Variety with 7 simple & easy to see traits • Purple vs white flower • 3. Small, easy to grow • Short generation time
Mendel • Chose comparable traits • 1. Flower color (white vs purple) • 2. Seed color (yellow vs green) • 3. Shape of seed (smooth vs wrinkled) • 4. Pod color (green vs yellow) • 5. Pod shape (inflated vs constricted) • 6. Flower location (axial vs terminal) • 7. Plant size (tall vs. short)
Mendel’s experiments • Allowed the peas to self-fertilize • Used true-breeding or pure-breeding plants
Mendel’s experiment • Crossed plants with alternate forms of characteristics • Example: • Tall plants with short plants
Mendel’s experiment • Parental generation • Pure white flowered plants X pure purple flowered plants • F1 always revealed purple flowered plants • Crossed the hybrid offspring • F2 filial generation • Some were purple • Some were white
Mendel’s experiment • F1 trait was hidden • F2 trait reappeared • Ratio in the F2 generation • 3:1 dominant:recessive • 3:1 purple:white • All traits revealed this ratio
Mendel’s experiments • F2 generation self-fertilized • White flowers always produce white flowers • Purple flowers • 1/3 produced only purple flowers • 2/3 produced dominant & recessive flowers in a 3:1 ratio
Mendel’s experiment • Concluded that the F2 generation was really 1:2:1 • ¼ pure-breeding dominant individuals • ½ non-pure breeding • ¼ pure-breeding recessive individuals
Mendel’s model • 1. Plants did not produce intermediate offspring. • 2. Alternate trait was there only not expressed
Mendel’s model • 3. Alternate traits segregated in the offspring • 4. Mendelian ratio: • 3:1 in the F2 generation • ¾ dominant • ¼ recessive
Mendel’s model • Alleles remain discrete • Do not influence the other • Do not blend • Are passed on in the gametes
Mendel’s first law of heredity • Law of Segregation: • Alternate alleles of a character • Segregate (separate) from each other & remain distinct. • Seen in meiosis when the homologous chromosomes separate • Form gametes
Mendel’s experiment • Crossed dihybrids • F1 generation demonstrated dominant phenotype for both traits • F2 generation showed a 9:3:3:1 phenotype (16 gamete combinations) • Each trait showed a 3:1 ratio similar to a monohybrid cross
Mendel’s second law of heredity • Law of Independent Assortment: • Genes located on different chromosomes • Assort independently • Assuming the genes are on separate chromosomes
Mendel • Phenotypes may be influenced by many factors • Many different genes • Environment
Incomplete dominance • Not all chromosomes are dominant or recessive • Heterozygous genotype can cause an intermediate between the parents
Codominance • Effect of both alleles can be seen • MN blood groups • Molecules on surface of RBC • MM, NN or MN • MN see affects of both
Codominance • Tay-Sachs disease (homozygous recessive) • Brain cells unable to break down lipids • Lacking enzyme build up lipids • Retardation & early death • Heterozygous • 50% the normal enzyme levels • Survive
Tay Sachs • 1 in 300,000 births in the US • 1 in 3500 births in Ashkenazi Jews • 1 in 28 are carriers in this population
Multiple alleles • ABO blood type • Gene codes an enzyme • Adds a sugar to lipids • Located on the surface of the RBC • Sugars act as recognition markers for the immune system
ABO • 3 gene alleles • 4 different blood types • I is the enzyme • IA (allele) adds galactose • IB (allele) adds galactosamine • i (allele) has no sugar
ABO • Type A IAIA Homozygous • Type A IAi Heterozygous • Type B IBIB Homozygous • Type B IBi Heterozygous • Type AB IAIB Heterozygous • Type O ii Homozygous
Rh blood group • Cell surface marker on the RBC • 85% have the marker • Rh + • Rh - does not have the marker • If a Rh- person gets blood that is Rh + • Develops antibodies against Rh+ blood.
ABO • Problem • Rh- mother gives birth to a child that is Rh + (Rh+ dad) • She has built up antibodies • They could cross into the babies blood. • Erythroblastosis fetalis: • Babies blood clumps due to antibodies against it’s Rh factor • RhoGam
Pleiotropic • Allele has more than one effect on the phenotype • One gene has many effects • Peas: gene for flower color • Codes for seed cover color • Yellow mice • Gene for yellow fur • Same for lethal developmental defect • So homozygous dominant would die
Pleiotropic • Inherited diseases that one gene produces many symptoms • Sickle cell anemia • Anemia • Joint pain/swelling • Heart failure • Splenomegaly • Renal failure
Sickle cell • Single aa change in beta-globin of hemoglobin • Causes hemoglobin to be sticky • Sickle cell shape • Higher incidence to people of African decent 1/500 • Heterozygous for the disease • Have greater resistance to malaria