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Mendelian Genetics Fig. 11.20, p. 190 How is genetic information passed? Thought 1- The Homunculus- tiny, complete person inside a sperm that grows into a full grown person Thought 2- Blended Heredity- Then comes Mendel….. Gregor Mendel1860’s - Austrian monk Worked with Pisum sativum (pea plants)interested in statistics of inheritance Never knew of genes or DNA Just lucky!! Why peas? Small Easy to grow many offspring mature quickly 7 identifiable traits can be self- and crossfertilized What is a trait? TRAIT: the physical effects of the expression of a gene • the hair is blonde • the bunny has spots • The cat has white feet Traits Mendel Chose to observe 1.)Flower color 2.)Seed Color 3.) Seed shape 4.) Pod Color 5.) Pod shape 6.) Flower position 7.)Plant height Each trait shows as 1 thing or another i.e.- flowers either purple or white pods either inflated or wrinkled Mendel’s Experiment 3 Steps Step 1- Create purebred parental generation PUREBRED: organism which has the same traits as both parents Yorkshire Terriers, Dalmatians, etc. Allows self-fertilization for many generations to get purebred white and purebred purple flowering plants PARENTAL (P) Generation STEP 2 Creates the F1 generation- First filial- latin for son or daughter Crosses Purple plant x White Plant ResultsAll had purple flowers!!!!! STEP 3 F2 Generation Crosses 2 F1 plants F1 x F1 (purple x purple) Results--3:1 ratio of purple to white! What’s an allele? ALLELE: a version of the expression of a gene • all genes have 2 alleles for their expression • a brown eyed person may have 2 “brown” alleles or 1 “brown” and one “blue” allele Mendel Summarizes Data 1) parents must transmit a “factor” containing information- we know these as genes now 2) Different forms of “factors”= ALLELES • Genetic makeup of all alleles= genotype • Physical appearance due to alleles= phenotype 3)Dominant alleles mask recessive alleles 4) Everyone has two factors-1 from each parentif they are the same= homozygous, if they are different= heterozygous DOMINANT: gene that is fully expressed when two alleles are paired RECESSIVE: gene that is not expressed when paired with a dominant gene or that produces a different version of the trait than the dominant Which one is dominant? Brown eyes or blue? a person with 2 “brown” alleles has brown eyes a person with 1 “brown” and 1 “blue” has brown eyes or a person with 2 “blue” alleles has blue eyes LAW OF DOMINANCE - the dominant allele is expressed and the recessive allele is hidden, if a dominant allele is not present, the recessive will be expressed MENDELS LAWS/modernized LAW OF SEGREGATION- during meiosis, gene pairs separate and end up in individual gametes LAW OF INDEPENDENT ASSORTMENT - during meiosis, traits will sort independently of each other Revisiting Law of Segregation Homozygous dominant parent Homozygous recessive parent A a A a (chromosomes duplicated before meiosis) A a AA aa A a meiosis I A A A a A a a a meiosis II A A A A a a a a gametes gametes A a Fertilization produces heterozygous offspring Fig. 11.4, p. 178 Revisiting Law of Independent Assortment Chromosome Theory of Heredity the material of inheritance is carried by genes on chromosomes, and the genes occur in pairs on homologous chromosomes the gene pairs can be found in different types called alleles and are found at the same place on each chromosome, called the LOCUS A pair of homologous chromosomes, each in the unduplicated state (most often, one from a male parent and its partner from a female parent) A gene locus (plural, loci), the location for a specific gene on a specific type of chromosome A pair of alleles (each being a certain molecular form of a gene) at corresponding loci on a pair of homologous chromosomes Three pairs of genes (at three loci on this pair of homologous chromosomes); same thing as three pairs of alleles Fig. 11.3, p. 177 BASIC GENETIC SHORTHAND in working with genes, scientists have found that assigning alphabetical letters to each trait makes the traits easy to follow through generations Rules: Dominant alleles are written as CAPITAL letters Recessive alleles are written as lower case letters Traits are expressed in pairs, so the diploid condition will always have 2 of the same letters representing the trait examples include BB, Bb, bb REVIEW GENOTYPE - the types of genes an organism has, expressed in letters PHENOTYPE - the physical expression(appearance) of the gene pair HOMOZYGOUS - a genotype description of a gene pair with both dominant or both recessive alleles HETEROZYGOUS - a genotype description of a gene pair with 1 dominant and 1 recessive allele in the gene pair Example of Genetic Law In peas, yellow pea color is dominant over green pea color. Just because it is more commonly seen, does not mean that trait will be the dominant trait Phenotype Genotype Genotypic Expression Yellow Pea BB Homozygous dominant Yellow Pea Bb Heterozygous Green Pea bb Homozygous recessive Ideas to Keep In Mind… it is simpler to discuss one gene pair at a time an organism will have many traits expressed at the same time not all genes are expressed by 2 alleles, some may be expressed by multiple alleles, like blood type not all traits are expressed by just one gene, some may involve many genes like skin color-determined by the expression of 21 different gene pairs MAKING PREDICTIONS USING GENES To improve crops To help produce an improved product people will buy To predict possibility of genetic disorders Paternity Tests HOW TO PREDICT use of PUNNETT SQUARES MONOHYBRID CROSSES • one trait being crossed • use 4 squares DIHYBRID CROSSES • two traits being crossed • use 16 squares In the Hairy Apeloideus, blue ears are dominant to red ears. If a heterozygous individual is crossed with an red eared individual, what is the probability that the offspring will have red ears? DIHYBRID CROSSES 2 Factors Example In Humans curly hair (C ) is dominant to straight hair (c) and freckles (F) are dominant to not having freckles (f). If a man who is heterozygous for curly hair and doesn’t have freckles marries a woman who has straight hair & is homozygous dominant for freckles, and they have babies, what could the possible phenotypes in their offspring be?? Completing the Cross 1- Figure out gametes- use the FOIL method- SEE BOARD 2- Write gametes above and on side of boxes- use 16 squares this time 3- Letter pairs go back together in offspring Completing the Cross 1. Determine the letter you’ll use 2. Determine the gametes of the parents 3.Make your punnett square DIFFICULT PREDICTIONS Mendel was lucky because his “factors” behaved in a predictable fashion and there were only 2 phenotypes per trait Not all traits are so orderly Incomplete Dominance the genes in the pair are not necessarily dominant or recessive, but become “BLENDED” in the offspring heterozygotes show the blending, homozygotes show one of 2 expressions Examples in Humans Familial Hypercholesterimia- caused by defective proteins that cannot remove LDL from blood- leads to atherosclerosis- Sickle Cell Anemia CODOMINANCE both genes become expressed, but are individually recognizable may involve multiple alleles ROAN Animal Coats Red haired parent + White haired parent = red and white haired offspring (Roan- horses and cattle) Examples in humans Tay-Sachs disease- in children- fat buildup on brain Gene is recessive but heterozygotes have good and bad enzymes presentbut they’re normal Blood Types A, B, AB, O- different antibodies present on RBCs Other Influences Polygenic traits have more than one gene pair controlling expression Pleiotropy occurs when a single gene affects more than one trait Multiple Alleles have more than 2 phenotypes expressed Blood Type Genetics Blood is … • 1. Plasma • 2. Cells • a. Platelets • b. white blood cells • c. Red blood cells Blood Type genetics Genes involved I = dominant i = recessive Rather than just 2 alleles, there are many Blood Type Genetics Blood Types • • • • A B AB O Genotypes IAIA or IAi IBIB or IBi IAIB ii http://anthro.palomar.edu/blood/table_of_A BO_and_Rh_blood_type_frequencies_in_U S.htm Blood Type Genetics Red Blood cells contain surface antibodies(like little flags)- marker proteins A blood contains A proteins and anti- B antibodies B blood contains B proteins and anti- A antibodies O blood contains no proteins and anti- A and antiB antibodies AB contains A and B proteins but no antibodies http://learn.genetics.utah.edu/units/basics/blood/types.cfm Blood Type genetics Antibodies recognize foreign blood and cause agglutination (clumping) Transfusions- example- person with Type A blood must be matched with A or O ; otherwise Anti B antibodies will recognize B blood and reject it Type 0 = universal donor Type AB = universal receiver PROBLEM If a man with O blood type marries a woman with type AB blood, what blood types are possible in their children? THE PAURY MOVICH SHOW TODAY’S SHOW: “I AM NOT THE FATHER!” THE PAURY MOVICH SHOW Next Week’s Show- My Dad is an Alien! X or Sex Linked Traits The X Chromosome is bigger when compared with the Y chromosome Females= XX Males = XY Some traits are only carried by Genes on the X chromosome Men need only 1 copy, women need 2 to exhibit the trait Example Hemophilia- failure of blood to clot XH = normal Xh= hemophilia Women need 2 copies of Xh Men only need 1 copy See example on board Other sex linked traits Red-Green Color Blindness Congenital Night Blindness Duchenne Muscular Dystrophy Environmental Influences such as weather may affect the phenotypic expression of the organism (will have multiple alleles) PEDIGREES allows you to show how a trait and the genes that control it are inherited within a family or group used to study familial inheritance could be used for genetic counseling for parents who are afraid of passing on a devastating genetic disorder