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Genetics Gregor Mendel Genetic Concepts • Phenotype – Physical characteristics of organism – Result of gene expression – Biochemical properties of proteins determine physical characteristics of organism • Genotype – Set of alleles present in genome of organism – Alleles are versions of genes Segregating Traits in Sweet Pea Genetic Crosses • Monohybrid – cross between two variants of a single trait – ABO type A x ABO type B • Dihybrid – cross between two variants of two traits – ABO type A, Rh+ x ABO type B, Rh- Mendel’s Monohybrid Crosses Pea Color Trait Generation P G x F1 Y All Yellow x F2 ¼ of progeny green What Does It Mean, Mendel??? • The disappearance of the green trait in F1 means it is recessive • The appearance of only the yellow trait in F1 means it is dominant • A recessive trait is seen if only recessive alleles of that gene are present • The dominant trait is seen if 1 or 2 alleles of that gene are present • THERE MUST BE TWO ALLELES OF EACH GENE • THE ALLELES SEPARATE DURING REPRODUCTION Mendel’s Dyhybrid Crosses Pea Color Trait & Height Trait Generation P G x Y All Yellow & Tall F1 x Mendel’s Dihybrid Cross F2 9/16 yellow & tall 3/16 green & tall 3/16 yellow & short 1/16 green & short What Does It Mean, Mendel??? • Yellow and Tall are dominant traits; green & short are recessive • EITHER ALLELE CONTROLLING COLOR CAN ASSORT WITH EITHER ALLELE CONTROLLING HEIGHT Mendel’s Principles • Law of Segregation – There are two alleles (distinct copies) of each gene in the genome of an organism – The two alleles are separated during meiosis and put into separate gametes • Law of Independent Assortment – Any allele of one gene may assort with any allele of any other gene – All possible allelic combinations are possible if enough gametes are produced Chromosomes & Genes Homologous Chromosomes Sister Chromatids Maternal Homolog Paternal Homolog Loci Alleles Non-Sister Chromatids Meiosis I Crossing Over (Not with John Edward) y Y z Z Meiosis II Inheritance Patterns • Complete Dominance • Co-dominance • Intermediate Dominance Complete Dominance/Recessiveness • Phenotype: ABO type A • Genotype: IAIA, IAO • Phenotype: ABO type B • Genotype: IBIB, IBO • Phenotype: ABO type O • Genotype: OO Co-Dominance • Phenotype: ABO type A • Genotype: IAIB • • • • Both A & B alleles encode functional enzymes Both enzymes work at same time Both modifications are made simultaneously Phenotype is combined effect of both A & B enzymes Intermediate Dominance • A dosage effect • B better than B’ • BB > BB’ > B’B’ • Red, pink, white flowers • RR > RW > WW Linkage • Genes on same chromosome are separated by crossing over during meiosis I • Genes located near each other, on the same chromosome, are separated infrequently • Often they are inherited together • This is termed “being linked” Chromosomal Sex Determination • In most organisms, males & females have a unique pair of chromosomes which determine sex • XY mechanism – Males – XY; females - XX • ZW mechanism – Males – ZZ; females - ZW • X0 mechanism – Males – X_ ; females - XX Sex Linkage Normal • Genes on the X or Y chromosomes are sex-linked • A phenotype caused by a gene on the X chromosome will appear in males more frequently Normal DNA Complementary Base Pairing