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Study of genetics/ inheritance of biological traits: hereditary 8 million combinations possible from the 23 chromosomes inherited from each parent. 64 trillion possible combinations for offspring

4.1 Early Beliefs and Mendel

Idea of biological traits long before mechanisms were understood. E.g. Babylonian Stone Tablets 6000 years old pedigrees of successive generations of champion horses. Others: artificial cross-pollination of date palms. Chinese farmers records: methods for improving different varieties of rice. Selection of desired traits: keen observation + trial and error Hybrids: cross-species, differ from parents in 1 or more traits: heterozygous. Early naturalists made assumptions Humans: mated selectively desirable traits. E.g. ancient Egyptians intermarriage of royalty. Ancient Spartans infanticide of babies w/ undesirable characteristics for warriors Pioneer of Genetics: Gregor Mendel

Austrian monk: Gregor Mendel (1822-1884): mid 19 century: worked with garden peas mechanism of gene inheritance in plants + basis for understanding hereditary missing piece in theory of how organisms survive + reproduce Why garden peas? 1) Garden peas have characteristics expressed in 2 ways. E.g. Colour of seeds, height of plants, different flower positions, different flower colors easy to see which traits were inherited 2) Garden peas are both self-fertilizing and cross-fertilizing. Fertilization: pollen in stamen pistil. Pollination: pollen grains fertilize egg cells in ovary. Self fertilization: 1 flower, predictable traits. Mendel cross pollinated using pure-breeding plants (always produce identical offspring), transferring pollen from 1 to pistil of another. First removed anthers of the recipient plant. Mendels Experiments Mendels predecessors: crossing of different traits = blend. Mendel proved wrong. A trait would dominate regardless of whether it came from male (pollen) parent or the female (seed) parent. Factors, genes (piece of DNA responsible for coding specific trait), control the inherited traits of a plant. Alternate forms: alleles(located same position on one of the pairs of homologous chromosomes alternate forms of genes given characteristic). E.g. Green and yellow seeds, tall and short stems. Principle of Dominance: Dominant (allele of this type determine expression of genetic trait) traits and Recessive (alleles are overruled, masked by dominant). System of symbols (letters) to show what traits were passed: Uppercase: dominant, lowercase: recessive. More experiments: crossing hybrid plants with round seeds from filial generational one (F2: filial: Latin for son). Both: Rr. F2: 75% round, 25% wrinkled. Sex cells/gametes from F2 are round F2, any with Rr, or RR will be round. One with rr will be wrinkled. Law of Segregation: Pair of factors/alleles separate/segregate into different sex cells = each = 1 member of alleles. Significance of Mendels Work One of first biologists careful, repeated experiments record + interpret quantitative data Prior: application of mathematical concepts to biology: not common Father of genetics: Mendelian genetics


4.2 Single-Trait Inheritance

Terms used in Genetics Genotype: alleles that an organism contains for 1 trait, genetic make up. Various combinations (TT, tt) Phenotype: observable traits of an organism that arise interaction <-> genes and environment Homozygous: genotype: union: both alleles are the same: pure breeding Heterozygous: genotype: union: dissimilar alleles Monohybrid cross: one allele pair of contrasting traits. Punnett Square: special chart organizes cross between sex cells of two individuals: predicts genotypes and phenotypes of offspring. Homologous chromosomes: One chromosome of each pair supplied by either parent. They contain equivalent sets of genes. Test Cross To find the genotype of a dominant phenotype: between unknown genotype and homozygous recessive genotype. Either (WW or Ww crossed with ww). If any offspring show recessive trait, individual must be heterozygous. Otherwise: homozygous

4.3 Selective Breeding

Selective Breeding: crossing desired traits offspring w/ 1+ favored characteristics. Used by farmers, ranchers improve varieties. E.g. Early farmers select plants w/ desirable characteristics seed crop for following year. Based on traits: flavor, yield, hardiness. E.g. rust-resistant wheat, sweet, full kernel corn, canola, different cabbages, etc. Inbreeding: breeding limited to number of desirable phenotypes purebreds, thoroughbred, maintaining/perpetuating certain characteristics. Desirable traits vary. E.g. Dogs, different traits. Complaints: problems for general public + breed. Hybridization: mating 2 different parents offspring w/ characteristics from both: new varieties. Tend to be more vigorous than either parent. Pedigree Charts Pedigree analysis. Graphic presentation of family tree traces passing of allele in patterns of inheritance. Number of symbols: gender, relationship between individuals, whether it expresses trait or carries allele in heterozygous genotype.

4.4 Multiple Alleles


Many genes with multiple alleles, not just two Drosophila melanogaster: many different alleles for eye color, but only 2 at a time. E.g. Fruit fly: alleles for wild-type eyes, white. Mate: alleles: apricot coloured eyes, honey coloured eyes. Dominance: wild type apricot honey white.

Symbols: Capital letters + superscript letters/numbers (different alleles/combinations) Blood types in superscripts. E.g. Homozygous blood type A: I(ss)aI(ss)a

Incomplete Dominance
Incomplete Dominance: 2 equally dominant alleles interact new phenotype. Intermediate Inheritance: incomplete dominance: interaction of two different traits: e.g. white + red = f1 pink. F2: one red to two pink to one white. Codominance: both alleles expressed at the same time. E.g. red bull + white cow: roan calf w/ intermingled red/white hair.

Genetic Screening Genetic screening: attempts identify genetic conditions prior to birth, or predict conditions prior to conception. Methods: detailed pedigrees, biochemical testing for known disorders.

Methods of prenatal diagnosis sex of child, presence of many genetic conditions. Most widely used: amniocentesis and chorionic villi sampling (CVS) Early detection of Huntingtons chorea possible: neurological disorder: dominant allele that is expressed later in life rapid deterioration of nerve control death.

4.6 Dihybrid Crosses Two-trait inheritance. E.g. Mendel same procedure: cross pollinated pure-breeding yellow YY, round RR seeds, with pure-breeding green yy, wrinkled rr seeds. F1 offspring: heterozygous for both yellow and round genotypes. Law of Independent Assortment: if genes from separate chromosomes are inherited independently of each other. E.g. genes that govern pea shape independently inherited from ones that control colour. Mendel F1 plants self fertilized F2. Each heterozygous, yellow, round plant 4 different phenotypes. Segregation: equal frequency. YyRr YR, yr, Yr, yR Yellow, round: 9/16. Green, round: 3/16. Yellow, wrinkled: 3/16. Green, wrinkled 1/16.

Probability Genotypic ratios + phenotypic ratios probability of inheriting a certain trait likelihood it will occur 1) Chance has no memories. Same probability every time, independent of the results of others. 2) Probability of independent events together = product of events occurring separately.