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Genetics Instructor: Dr. Jihad Abdallah Topic 7: Mendelian Genetics 1 • In 1866, Gregor Mendel published the results of a series of experiments that formed the basis of the modern day genetics. • He performed his experiments on the garden pea (Pisum sativum) simple genetic crosses between strains of pea. • Garden pea is self-fertilizing in nature, but easy to cross-breed experimentally. • He studied seven characters involving seed shape and color, pod shape and color, flower color and position, and plant height. 2 The Monohybrid Cross • Involves a single character with two contrasting forms ( e.g., seed color: yellow, green). The monohybrid cross is made by mating individuals from two parent strains, each strain exhibiting one of the two contrasting forms of the character under study. P1(White flowers) x P2 (Purple flowers) F1 Selfing F2 (First filial generation) All purple (Second filial generation) 705 Purple and 224 White (3 : 1 ratio) 3 3 1 4 5 Mendel’s first three postulates 1. Unit factors in pairs: genetic characters are controlled by unit factors that exist in pairs in individual organisms (Diploid). • These unit factors are now called genes or alleles. • Allele: an alternative form of the same gene. • Because the factors occur in pairs, three combinations are possible: - two factors for the purple color (PP) Homozygous - two factors for the white color (pp) - one factor for each (Pp) Heterozygous 6 2. Dominant/recessive factors: when two unlike unit factors responsible for a single character are present in a single individual, one unit factor is dominant over the other which is said to be recessive. - PP purple - Pp purple - pp white P (the purple color allele) is the dominant and p (the white color allele) is the recessive. 7 3. Segregation: during the formation of gametes, the paired unit factors (alleles) separate or segregate randomly so that each gamete receives one factor (allele) or the other with equal probability (chance). • This third postulate is called “Mendel’s first law” Law of Segregation Pp x Pp (½ P, ½ p) x (½ P, ½ p) ¼ PP, ½ Pp, ¼ pp 1: 2 : 1 Genotypic ratios ¾ purple, ¼ white 3: 1 Phenotypic ratios 8 Punnett Square Female gametes ½P ½p ½P ¼ PP ¼ Pp ½p ¼ pP ¼ pp Male gametes Genotypic ratios: ¼ PP : ½Pp : ¼ pp 1 : 2 : 1 Phenotypic ratios: ¾ Purple : ¼ white 3 : 1 9 10 The Test Cross (single character) • A test designed to reveal the genotype of an individual which shows the dominant phenotype. In this cross, the individual with unknown genotype but showing the dominant phenotype is crossed to a homozygous recessive individual (an individual showing the recessive phenotype). • Example: Tall plant (DD or Dd) x Dwarf plant (dd) - If the geotype of the tall plant is DD we expect all offspring plants to be tall (have Dd genotype) - If the genotype is Dd we expect half the offspring to be tall (Dd) and the other half to be dwarf (dd). 11 The Dihybrid Cross • A cross which involves two characters • Mendel crossed two pure strains of pea, one with round yellow seeds and one with wrinkled green seeds all F1 offspring are dihybrids having round yellow seeds. - Round seeds allele (R) is dominant over wrinkled seed allele (r) - Yellow seed allele (Y) is dominant over the green seed allele (y) • He then allowed the F1 plants to self-fertilize and got the following results: - 9/16 round, yellow - 3/16 round, green - 3/16 wrinkled, yellow - 1/16 wrinkled, green 12 The dihybrid cross P1 x P2 (round, yellow) (wrinkled, green) F1 dihybrids (all have round, yellow seeds) Self-fertilization F2 9/16 round, yellow 3/16 round, green 3/16 wrinkled, yellow 1/16 wrinkled, green 9 : 3 : 3 : 1 phenotypic ratio 13 Mendel’s Fourth Postulate • Independent assortment: during gamete formation, segregating pairs of unit factors assort independent of each other (the alleles at one locus segregate into the gametes independently of the pair of alleles found at a different locus). • This is Mendel’s second law and is called the “Law of Independent Assortment” • RrYy 4 gamete types with equal proportions: RY, Ry, rY, ry 14 15 Easy way to obtain phenotypic and genotypic ratios Phenotypic ratios First character Second character (3/4 round: 1/4 wrinkled) x (3/4 yellow:1/4 green) ¾ round x ¾ yellow 9/16 round, yellow ¾ round x ¼ green 3/16 round, green ¼ wrinkled x ¾ yellow 3/16 wrinkled, yellow ¼ wrinkled x ¼ green 1/16 wrinkled, green Genotypic ratios (1/4 RR: 2/4 Rr: 1/4 rr ) x (1/4 YY : 2/4Yy : 1/4 yy) 1/16 RRYY, 2/16RRYy, 1/16 RRyy 2/16 RrYY, 4/16 RrYy, 2/16 Rryy 1/16 rrYY, 2/16 rrYy, 1/16 rryy 16 n = number of characters (loci) monohybrid dihybrid trihybrid n -hybrid 2 4 8 2n 1/4 1/16 1/64 (1/2n)2 Number of different F2 phenotypes given complete dominance 2 4 8 2n Number of different F2 genotypes 3 9 27 3n F1 gametic genotypes Proportion of homozygous recessives in F2 17