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Introduction to Genetics Honors Biology Chapter 9 Short History of Genetics 1. 1800’s: Blending……wrong! Modern Genetics: Particulate Monogenic Inheritance 2. Cytogenetics 3. Dominant, recessive, x-linked Easy to understand and solved with a Punnett Square, but very rare Karyotype used to visualize, easy to understand, but rare Multifactorial Common conditions but complex genetic traits Must understand entire genome and look for variants People are 99.6% the same Common variants = common diseases Quantatative Traits Who is Gregor Mendel His experiments 7 traits in pea plants Why pea plants? Dominant Expression: Trait: Recessive Expression: 1. Form of ripe seed Smooth Wrinkled 2. Color of seed albumen Yellow Green 3. Color of seed coat Grey White 4. Form of ripe pods Inflated Constricted 5. Color of unripe pods Green Yellow 6. Position of flowers Axial Terminal 7. Length of stem Tall Dwarf Genetics Vocab Genetics F1 and F2 Generations Reginald Punnett (Mendel Statistics) Chromosome vs. Gene More Genetics Vocab Alleles Dominant vs. Recessive Homozygous vs. Heterozygous Genotype vs. Phenotype From gene to trait Karyotypes What can this tell us? What can it not tell us? Genetics Problem Rules 1. Always “assign” letters to represent the alleles. For “complete” dominance problems, use the same letter: 2. 3. Capital Letter = Dominant Allele Lower Case Letter = Recessive Allele Read the problem thoroughly to determine the parent’s genotypes. If heterozygous, the capital letter is always first! Solve the problem (predict the genotypes of the offspring) using a Punnett Square. You must always: Have a key for the letters Show the genotypes of the parents Show your work in a Punnett Square Answer what the question is asking Monohybrid Crosses Involves a single gene where one allele is dominant over another Use an upper and lower case letter T=Tall t=short tt TT or Tt The Monohybrid Cross In dogs, wire hair (A) is dominant to smooth (a). In a cross of a homozygous wire-haired dog with a smooth-haired dog, what will be the genotype and phenotype of the F1 generation? The Monohybrid Cross Wood rats are medium sized rodents with lots of interesting behaviors. You may know of them as packrats. Let’s assume that the trait of bringing home shiny objects (B) is dominant to the trait of carrying home only dull objects (b). Suppose two heterozygous individuals are crossed. How many of each genotype would be expected if only 4 offspring were produced? The Monohybrid Cross In mice, black fur is dominant over white fur. If two mice are crossed and produce all black offspring, list the possible genotypes and phenotypes the parents could have. The Monohybrid Cross In humans, earlobes are either free or attached. The free earlobe is completely dominant over attached earlobes. A man with free earlobes marries a woman with attached earlobes. Of their four children, one has free earlobes and three have attached earlobes. Give the genotype for the man, his wife and their children. The Monohybrid Cross In humans, having a widow’s peak is recessive to a normal hair line. Cross a woman who has a straight hair line (whose mother had a widow’s peak) with a man who is homozygous recessive for the trait. What are the genotypes and phenotypes of their offspring? Incomplete Dominance Involves a single gene where neither trait is dominant over another. Results in an intermediate expression of the trait Use two upper case letters R=Red W=White RR WW RW The Incomplete Dominance Cross In the four o’clock flower like a petunia, the allele for red flowers is incompletely dominant over the allele for white flower color. When a red flower is crossed with a white one, an intermediate pink flower results. Show the genotypes and phenotypes of the parents and the F1 generation of a cross between a red and a white four o’clock flower. The Incomplete Dominance Cross In guinea pigs, color of coat is determined by at least two alleles. Yellow coat is determined by the homozygous genotype YY, white by the homozygous genotype WW, and the cream by the heterozygous genotype YW. Determine the expected genotype and phenotype ratio of the F1 generation which would result from a cross between. a. two cream colored guinea pigs b. a yellow coated and a cream coated animal Dihybrid Crosses Involves two genes rather than one Follow the rules given in the problem, may be complete or incomplete T=pointed wings P=pink wings t=rounded wings p=yellow wings TT or Tt PP or Pp TtPp ttpp The Dihybrid Cross Dark hair is dominant over blonde hair, and a widow’s peak hairline is dominant over a straight hairline. If two people who were both heterozygous for both traits had children, what is the genotype and phenotype ratio for the possible offspring. The Dihybrid Cross In rabbits, the allele for short hair is dominant over long hair and black fur is dominant over brown. Cross a heterozygous short hair and homozygous dominant black fur rabbit with a female rabbit that is homozygous recessive for both traits. What are the phenotypes and genotypes of their offspring? Sex-linked Traits Involves genes on the X sex chromosome First discovered in the early 1900’s by Thomas Hunt Morgan who was studying fruit flies. Most sex-linked genes are recessive which means it only takes one gene from the mother to give the male offspring (XY) the mutant trait. Females (XX) need two genes, one from each parent to have the mutant trait. Carrier Females: females who carry a recessive allele but do not have the recessive phenotype R=red r=white Females: XRXR or XRXr Females: XrXr Males: XRY Males: XrY Sex-linked Problems A woman heterozygous for hemophilia (a sex-linked trait) marries a normal male. What are these person’s genotypes? Can they have male children with hemophila? How about female children with the disease? Sex-linked Problems Baldness is a recessive sex-linked trait. Cross a carrier female with a bald male. a. What percentage of their daughters will be bald? b. What percentage of children will be bald? Multiple Alleles Involves a single trait that is controlled by 3 alleles (rather than 2 which is what we are used to) Blood types are the most common example, O is recessive, but A and B are both dominant Alleles: A, B, O AA or AO BB or BO AB OO Multiple Allele Problems What are the possible blood types in the children with parents having type A and type B blood? Multiple Allele Problems Show how a father with blood type AB could have one daughter with blood type A and another with blood type B. a. What must be the genotype of the mother? b. What must be the genotype of the two daughters? Epistasis Involves a single trait, but two genes at different loci on a single chromosome Loci is the location of the gene on a chromosome One gene controls the trait while the other turns the first gene on or off depending on the genotype. Gene 1: gene for the trait R=purple r=white Gene 2: controlling gene N= gene on n=gene off Purple Trait: RR or Rr (Must have NN or Nn) White Trait: rr (Must have NN or Nn OR RR/Rr with nn Epistasis Problems Two unlinked loci effect mouse hair color. AA or Aa mice are agouti (brown). Mice with genotype aa are albino because all pigment production is blocked, regardless of the phenotype at the second locus. At the second locus, the B allele (agouti coat) is dominant to the b allele (black coat). What would be the result of a cross between two agouti mice of the genotype AaBb? Epistasis Problems In wheat kernels, the R allele confers red color and the r allele brown kernel color. The B gene controls expression of the R gene. Corn of genotype bb will have white kernels. If a red kernel wheat plant with the genotype RrBb is fertilized by a brown wheat plant rrBb, what type of wheat plants are produced? Pedigress A chart used to track traits through generations Females are circles, Males are squares Shaded individuals show a trait (usually recessive) Generations are given roman numerals Individuals in generations are given numbers Pedigree Problems N= Normal Vision n= Night Blindness 1.Write the genotypes of all individual below their symbol in the pedigree above. 2.If individuals II-2 and II-8 were to marry and have children, what are the possible genotypes of any children they might have? Pedigree Problems Could this trait be inherited as a simple autosomal recessive? Could this trait be inherited as a simple autosomal dominant? Could this trait be inherited as a simple X-linked recessive? Mutations, Evolution, Natural Selection Mutations are random changes in a genome that occur during cell division and/or reproduction Evolution: random process controlled by mutations Natural Selection: nonrandom process controlling populations ? Population Genetics Hardy-Weinburg Gene Pool Gene Frequency The Case of the Blind Fish Does natural selection always choose against the recessive trait?