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Genetic Crosses Genetics “study of genes and heredity” Gene – segment of DNA that codes for a particular trait Heredity – study of how traits are passed on from parent to offspring Gregor Mendel “Father of Genetics” Studied garden pea plants Experiment results P1 generation F1 generation F2 generation Gene Expression Genotype – actual genetic makeup of an organism (can’t see it) Phenotype – physical expression of a trait (what you see) Traits Dominant – allele found in all generations because it dominates the other allele - represented by capital letter Recessive – has no observable effect on an organism when paired with a dominant trait - represented by lowercase letter Homozygous – both alleles are the same Heterozygous – alleles are different Monohybrid Crosses – cross using only one trait Punnett Square Steps for Solving Monohybrid Crosses Read the problem carefully Identify dominant trait and assign is a CAPTIAL letter symbol Assign the recessive trait a lower case letter of the dominant symbol Identify the genotypes of the parents Form the gametes Fill in the square Count the genotypes and phenotypes Example In a pea plant, tall is dominant to short. Cross a homozygous tall with a heterozygous tall plant. Incomplete, Complete and Codominance Incomplete v. Complete Dominance Complete Dominance – one allele is completely dominant over another * PP and Pp (both dominant) Incomplete Dominance – phenotype in F1 generation that is between that of the parents RR – dominant rr – recessive Rr – intermediate (mix between the colors) Example of Incomplete Dominance Codominance neither allele is dominant; both alleles for a gene are expressed in a heterozygous offspring Example: R – represents red W - represents white RW - represents roan (both colors present) Multiple Allele Traits “traits whose genes have more than 2 alleles” Human Blood Types 4 blood types 1. Type A, Type B, Type AB, Type O Genotypes 1. IAIA, IAIO 2. IBIB, IBIO 3. IAIB 4. IOIO Type A Type B Type AB Type O Almost to the end RH Factor in the Blood RH+ = have the protein RH- = does not have the protein Genotypes Phenotypes IRH+/IRH+ RH+ IRH+/IRHIRH-/IRHRH- Example Tommy has Type AB+ (homozygous RH+) blood. He marries Susie who is homozygous B-. More Examples 1. Bob has homozygous A blood. He marries Jane who has AB blood. What are the possible blood types of the offspring? 2. Betty has type O blood. She has a child that has type A blood. She claims Jim is the father. He has type B blood. Can he be the father? Show all the work to make your determination. Sex Determination Early 1900s – Thomas Hunt Morgan Female – X-X Male – X-Y Sex chromosomes – chromosomes which determine sex Sex-Linked Traits “traits who genes are found on the X chromosome” Genotypes example 1. XHXH – normal female 2. XHXh – normal female who is a carrier 3. XhXh – abnormal female 4. XHY – normal male 5. XhY – abnormal male Example 1. A mother that was normal/non carrier for hemophilia married a man that was a hemophiliac. What is the probability that they will have a child that is a hemophiliac? Polygenic Traits • • • “traits that have more than one gene” Most common Skin color, height, weight, eye color, fur color Human Genetic Studies Pedigrees “a family record that shows how a trait is inherited over several generations” Practice 1. What are the genotypes of both sets of parents? 2. What are the genotypes of each child from both sets of parents? 3. What is the relationship between offspring 8 and 9? 4. What is the relationship between offspring 13 and 1? Genetic Disorders “diseases which are expressed on the chromosomes” Single-Allele Traits 1. Cystic Fibrosis – failure for the chloride ion transport mechanism * mucus clogs the liver, lungs, and pancreas X-Linked Traits 1. Colorblindness 2. Hemophilia 3. Duchenne muscular Dystrophy More Genetic Disorders 1. Tay-sachs 2. PKU Gene Mutation Disorders “something changes in the genes” Point Mutation – one nitrogenous base is replaced by a different nitrogenous base * Sickle cell Anemia – results in defective form of the protein hemoglobin Review slide of mutations “any change in an organism’s DNA” Change DNA Change RNA change protein Somatic Cell Mutations 1. cannot be passed to offspring 2. ex) Cancer (human skin cancer, leukemia) Germ-Cell Mutations 1. occur in organism’s germ cell (gametes) 2. can be passed on to offspring Nondisjuntion Mutation “failure of chromosome to separate from it’s homologue during meiosis” One extra or one less chromosome at chromosome location Monosomy v. Trisomy Examples of Nondisjunction Disorders Down Syndrome (Trisomy 21) 1. extra chromosome 21 2. Symptoms – mental retardation, muscle weakness, large forehead, large tongue, heart defects, short stature Klinefelters Syndrome 1. male with extra X chromosome (XXY) 2. Symptoms: sometimes mental retardation, infertile, some feminine characteristics, undersized testicles Turners Syndrome 1. single X chromosomes (XO) 2. female appearance, infertile due to not maturing sexually Karyotypes of Individuals with Genetic Disorders Detecting Genetic Disorders Genetic Screening 1. examining a person’s DNA 2. Karyotype Ways to get a cell sample 1. amniocentesis 2. chorionic villi sampling Finding deformities 1. ultrasound