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neither of the two traits are seen in the F1 of a cross of two pure breeding traits. Examples: flower colors, blooming time in peas |
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both alternative traits are expressed in the F1 of a cross of two pure example: spotted or dotted lentil plants. breeding parents. |
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There may be deviations from ______ and ________ • Variants are not restricted to two ______. • A single gene may affect _______ • A single phenotype may be the result of __________ actions and _________. |
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complete dominance, recessivness. allelic forms. Multiple phenotypes. multiple gene actions, environmental factors. |
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In a given individual, there can be only ___________ for a given gene _______. • The dominance relationships are between the_________, and need not be the same for each allele pair of a given locus. |
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2 alleles, locus. 2 coexisting alleles. |
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Three different alleles for blood type in humans |
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There are 4 different blood group phenotypes: |
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Biochemical basis for blood type in humans |
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– Complex membrane anchored molecules that cause a variation in the structure of the sugar polymer on the cell surface. – Three possibilities: Sugar type A, B or none. |
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This is a large multiple allele series: involves three different loci and several alleles at each locus. |
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Polymorphism antigens: • These antigens are carried |
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HLA A, B and C. by most human cells. |
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Polymorphic antigens _______at each locus, the relationship between any two alleles at a given locus is always ______ |
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20-100 alleles, codominance |
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Polymorphism, HLA antigens create... |
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a powerful source of variation in human populations. |
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Chance alterations arise spontaneously. • Gamete producing cells can transmit mutations to offspring. |
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Mutations for new alleles. Mutattions make it possible to follow.... Stability of a mutation depends on it's... A mutation may take hold in the population to become a... |
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...the pattern of transmission. ... functional consequences. ...polymorphism. |
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An allele frequency greater than 1% is a ________; less than 1% is a_______ |
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Each individual carries .... • The number of copies of alleles in a population
• The percentage of a given allele in the population.... |
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...two copies of a gene.
... = 2 x #of individuals in population.
... is its allele frequency. |
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Sometimes several alleles exist... example: agouti gene in mouse. – A= brown (agouti) – a= black – at= black with yellow belly. • Both a and at are prone to predator attacks... |
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... but most are mutant:
..., hence frequency never gets to greater than 1%. |
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The phenomenon of a single gene determining multiple distinct traits is known as |
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One gene may contribute towards several visible characteristics. • E.g: coat color in mice • In addition to coat color, a specific allele at this locus also causes lethality. |
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Pleotropy may be the result of ... • Example: |
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a single gene product (protein)giving rise to multiple functional characteristics.
Sickle cell syndrome |
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Lethality can be.... Examples of latter |
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Prenatal or Postnatal... – Tay-Sachs Disease: paralysis, deteriorating nervous system, mental retardation etc. – Deficiency in enzyme Hexosaminidase A – Prevalent in Eastern European Jews – Death of infants before they reach ~3 years of age. |
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Vast majority of traits are determined by multiple factors:___________ • Gene interactions between ... • Example: |
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-Genetic as well as environmental -two or more genes -Lentil Seed color |
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Multifactorial Inheritance F1 all same, F2: __________ • F2 phenotypic ratio is ______ same as in Mendel’s original crosses). • Difference: in original crosses, two independent traits; here: |
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All different phenotypes 9:3:3:1 multiple phenotypes of single trait |
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Dominance relationship for Multifactoral Inheritance |
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Tan is dominant to green – Gray is dominant to green – Brown is dominant to gray, green and tan. – Tan and Gray are incompletely dominant, giving rise to brown. |
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Genotypic classes for Multifactorial traits |
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Genotypic classes: – Brown: A_B_ – Tan: A_bb – Gray: aaB_ – Green: aabb |
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Each genotypic class may not always dictate a • Two or more genotypic classes may display an... • Example: |
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-unique phenotype -identical phenotype. -Two lines of pure breeding white flowered pea plants falling into different genotypic classes: AAbb & aaBB |
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Complimentary Gene action Biochemical basis: two genes work in tandem to _____ • A dominant allele of both _____ • Now the phenotypic ratio is altered from 9:3:3:1 to_____ |
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-produce color. -essential to produce color - 9:7. (can also be 15:1) |
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Complementary Gene Action in Humans • Example _____ • At least one ______ each of _____ is required for hearing. • Here, we see a situation where only two genes are considered. • Two deaf parents can give rise to a _______ |
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-deafness. -dominant allele, fifty different genes -normally hearing offspring. |
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Epistasis • One gene’s allele masks the phenotype of the • Four genotypic classes produce.... |
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- other gene’s alleles. - fewer than four phenotypes. |
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when the recessive allele of one gene masks the effects of either allele of the second gene. |
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when the dominant allele of one gene masks the effects of either allele of the second gene. |
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Recessive epistasis Example 1: • Example 2: • Phenotypic ratios are . |
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-Coat color of Labrador retriever -ABO blood groups: Bombay phenotype. 9:3:4 in F2 |
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Dominant Epistasis • caused by the dominant allele • Example... |
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...of one gene, masking the action of either allele of the other gene. -Summer Squash and Feather color of chicken |
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: Genotype does not necessarily define phenotype. The proportion of individuals with a given genotype express the phenotype |
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... all individuals show phenotype. ....half the individuals show phenotype.
• Example: |
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100% penetrance...50% penetrance.
retinoblastoma: only 75% individuals affected. |
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• Expressivity: • Retinoblastoma: |
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the degree or intensity with which a particular genotype is expressed in a phenotype in a given individual.
some have both eyes affected, some only one |
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they have a subtle, secondary effect which alters the phenotypes produced by the primary genes.
• E.G. Tail length in mice. The mutant allele t causes a shortening of the tail. Not all short tails are of the same length: another gene affects the actual length. (Variable expressivity). |
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The environment may influence the effect of a genotype on the phenotype. • E.G.: Siamese cats: temperature dependent color of coat. Color shows up only in extremities, where the temp is lower (enzyme for pigment formation is active only at lower temp.) |
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Continuous Traits • Variation of the same trait... • Multiple genes affect a single trait... • Example: Height: _____adds 6 inches to a base. a... ____adds 3 inches to a base. b height of 5 ft. Allele a adds nothing. Allele B adds 3 inches. Allele b adds nothing |
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...different intensities of skin color; different gradations in height etc. ...phenotype depends on how many dominant alleles of each trait one has. -A...adds nothing -B...adds nothing |
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AABB = • AaBb = • Aa BB = • AAbb = |
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6.5 ft 5 ft, 9 inches 6 ft. 6 ft. |
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