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Chapter 9 Lab Bio Chapter 12 Honors Bio Brainstorm: - define genetics - define heredity Anticipatory Set: How important is it to be able to find your own answers to questions you may face? Does education and learning end with your high school or college years? How do you plan to develop the skills to become a life long learner? The study of how characteristics are transmitted from parent to offspring The transmission of characteristics from parent to offspring Chromosome: structure within nucleus, made of DNA Gene: unit of heredity found in DNA molecule (words) Allele: symbols (letter) used to represent genes ex: T=tall, t=short Dominant: trait/characteristic that are expressed – represented with capital letter Recessive: trait/characteristic that may not be expressed (always lower case) ex: t=short Homozygous/pure: both alleles are alike ex: TT or tt Heterozygous/hybrid: alleles differ ex: Tt Genotype: genetic make up ex: (pure homozygous) tall, hybrid (hetero.) tall Phenotype: what you see (physical appearance) ex: tall, short Cross: symbolic of reproduction ____ X _____ P: parent generation F1: first generation A GENE is the segment of DNA on a chromosome that controls a particular trait. Chromosomes are in pairs i.e. Genes occur in pairs (each of several alternative forms of a gene is called an ALLELE MENDEL’S FACTORS ARE NOW KNOW AS ALLELES!!!!!! CAPITAL = Dominant alleles Lower case = recessive alleles Example: P = purple color (dom.) p = white color (rec.) When gametes combine in fertilization offspring receive ONE ALLELE for a given trait from EACH PARENT! Helps us predict the likely outcome of offspring!! 1. genotype: genetic make-up, consists of alleles Ex: P=purple, Pp = purple PP = purple White = pp p=white 2. Phenotype = appearance of an offspring (what you see) Ex: purple flowers, white flowers, hair color 3. Homozygous = when both alleles of a pair are alike Ex: tt, TT, PP, pp Homozygouse recessive = pp Homozygouse dominant = PP 4. Heterozygous = two alleles in a pair are different Ex: Pp or Tt Do you think that we could make as many discoveries in science if we didn’t use animals? Explain….. ! Austrian Monk Studied garden pea plants (Pisum sativum) 1842 he entered the monastery in Austria 1851 enetered Univ. of Vienna to study science and mathematics (statistics) Observed 7 characteristics each in 2 contrasting traits: Long short stems Axial terminal (flower position) Green yellow (pod color) Inflated constricted (pod appearance) Smooth wrinkled (seed texture) Yellow green (seed color) Purple white (flower color) He controlled how pea plants were POLLINATED!!! SELF POLLINATION=pollen is transferred from anthers (male) of a flower to stigma (female) of same flower or flower on the same plant CROSS POLLINATION=involves flowers of 2 separate plants 1. remove anthers from a flower 2. manually transfer the anther of a flower on one plant to stigma of a flower on another plant P1 (cross) pure Purple x pure White Law of Dominance F1 ALL came out PURPLE F1 (cross) Purple x Purple Law of Segregation F2 ¾ PURPLE, ¼ WHITE Mendel hypothesized that the trait appearing in the F1 generation was controlled by a DOMINANT FACTOR (allele) because it masked, or dominated, the other factor for a specific characteristic. RECESSIVE is the trait that did not appear in the F1 generation but reappeared in the F2 generation. A pair of factors (alleles) is segregated (or separated) during the formation of gametes Each reproductive cell (gamete) receives only one factor (allele) of each pair. Crossed two heterozygous purple plants! Is the purple plant homozygous or heterozygous ? Perform a test cross! Always! Cross the unknown with a homozygous recessive Test Cross ? x gg P g Key: G=green g= yellow G g G g F1 g Gg Phenotype: 100% green Gg Genotype: 100% heterozygous P ? x gg Key: G=green g= yellow F1 Phenotype: 50% green 50% yellow Genotype: Neither allele is dominant In some cases, an intermediate phenotype is shown In snapdragons, flower color can be red, pink, or white. The heterozygous condition results in pink flowers rr RR Rr Key: R= Red r= White F1 Phenotype: 100% pink F1 Genotype: 100% heterozygous Rr Key: R= Red r= White Phenotype: 1:2:1 25% Red 25% White 50% Pink Genotype: 1:2:1 25% homozygous RR 25% homozygous rr 50% heterozygous Rr Both alleles are expressed equally Neither allele is more dominant than the other Erminette chickens Roan Cows Key: B =Black B1 = White B B B1 B B1 B B1 B1 B B1 B B1 P generation Black chicken X White chicken F1 generation = erminette (checkered patterned) Phenotype: 4:0 or 1:0 100% erminette Genotype: 4:0 or 1:0 100% heterozygous Key: BB =Black BW = White Key: B= Black W= White BB B1 B2 B1 B1 B1 B1 B2 B2 B1 B2 B2 B2 BW BB BB BB BB BW BW BB BW BW BW Key: B1 =Black B2 = White 1. What does recombination mean? 2. Do you know of any traits that seems to be inherited together? Ex: red hair and fair skin…… Does anyone here look “nothing” like their parents? If not do you know someone who looks nothing like their family members? Can we explain this genetically? Traits are inherited independently of each other unless they are linked. Random Assortment Genetically Unique Independent Assortment is the random assortment of chromosomes during the production of gametes, the result are genetically unique individual gametes. He also crossed plants with 2 different characteristics Ex: flower color & seed color FACTORS FOR DIFFERENT CHARACTERISTICS ARE DISTRIBUTED TO GAMETES INDEPENDENTLY. Ex: Pure tall yellow x pure short green TTYY x ttyy XX= female Female karyotype Xy = male Male karyotype Nondisjunction: failure of chromosomes to separate during meiosis 1 or 2 Results in an extra chromosome or a missing chromosome http://glencoe.mcgraw- hill.com/olcweb/cgi/pluginpop.cgi?it=swf::550::400::/sites/dl/ free/0078757134/383925/Chapter11_NGS_VisualizingNondisju nction_10_10_06.swf::Visualizing%20Nondisjunction XO- Turner Syndrome XXX- Trisomy X XXY- Klinefelter Syndrome XYY- Jacob Syndrome Very often, symptoms are slight due to X-inactivation and the small amount of genes found on the Y chromosome SEX LINKED TRAITS X-LINKED GENES: Genes carried on the X chromosome Hemophilia Color blindness Baldness Muscular Dystrophy Mother H H Without hemophilia = X X H Without hemophilia = X X h With hemophilia = X X h Father H Without hemophilia = X y h With hemophilia = X y h CARRIER How common is your blood type? 46.1% 38.8% 11.1% 3.9% Human blood type is determined by co-dominant alleles Antigens-proteins-exist on the surface of all of your red blood cells. Blood types For simplicity IA A IB B i O Found in the plasma Specific to a single kind of antigen Attack and kill that specific kind of antigen •There are 3 alleles for blood type: A, B, O •Since we have 2 genes: 6 possible combinations http://learn.genetics.utah.edu/units/basics/blood/types.cfm Blood Types AA or AO = Type A BB or BO = Type B OO = Type O AB = Type AB Antibody B- protects the body by attacking foreign B antigen blood RBC= Red Blood Cell = antibody Blood Transfusions Blood transfusions – used to replace blood lost during surgery or a serious injury or if the body can't make blood properly because of an illness. Who can give you blood? TYPE O -Universal Donors Universal Donor can give blood to any blood type •No antigens present on RBC TYPE AB- Universal Recipients can receive any blood type • No antibodies present in plasma Universal Recipient Rhesus monkeys –contain certain similarities with humans A blood protein was discovered and present in the blood of some people The presence of the protein, or lack of it, is referred to as the Rh (for Rhesus) factor. Rh positive (Rh+) - contain the protein Rh negative (Rh-)- NOT contain the protein Rh factor Rh+ http://www.fi.edu/biosci/blood/rh.html Rh- Possible genotypes Rh+/Rh+ Rh+/RhRh-/Rh- A+ AB+ BAB+ ABO+ O- Pedigree of Queen Victoria Have you ever seen a family tree… do you have one?? Graphic representation of family inheritance. Shows a pattern of inheritance in a family for a specific trait (phenotype) Genotypes can usually be determined Track the occurrence of diseases such as: Huntington’s – simple dominant – lethal allele – causes breakdown of the brain Cystic fibrosis – 1/2500 – mucus accumulates (white North Amer.) Tay-Sachs disease – lipids accumulate in CNS (Jewish) Phenylketonuria – missing enzyme causes problems in CNS (Nordic/Swedish) •generations are numbered with Roman Numerals •oldest offspring are on the left Autosomal dominant: The disease is passed from the father (II-3) to the son (III-5), this never happens with X-linked traits. The disease occurs in three consecutive generations, this is rare with recessive traits. Males and females are affected, with roughly the same probability. –Examples: Polydactyly –Huntington’s disease Autosomal recessive Males and females are equally likely to be affected. The trait is characteristically found in siblings, not parents of affected or the offspring of affected. Parents of affected children may be related. The rarer the trait in the general population, the more likely a consanguineous mating is involved. –Cystic fibrosis –Tay-Sach’s disease Sex-linked recessive conditions The disease is never passed from father to son. Males are much more likely to be affected than females. •All affected males in a family are related through their mothers. –Examples: –Color-blindness Trait or disease is typically passed from an affected grandfather, through his carrier daughters, to half of his grandsons. –Duchenne Muscular Dystrophy •X-linked recessive •Autosomal dominant •Autosomal recessive •X-linked recessive •Autosomal dominant •Autosomal recessive •X-linked recessive •Autosomal dominant •Autosomal recessive Law of Dominance Law of Segregation Test Cross MENDEL’S RULES DO NOT APPLY TO: Incomplete dominance Multiple alleles Codominmanmce Polygenic inheritance Pleiotyropy Environmental influence Law of dominance Law of segregation Test cross Incomplete dominance Codominance Independent assortment Sex determination Sex linkage Multiple alleles