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Patterns of Heredity and Human Genetics Pedigree – made up of a set of symbols that identify males and females, the individuals affected by a trait being studied and family relationships (Family Tree) Pedigree Cystic Fibrosis (CF) Lethal genetic disorder among whites Thick mucus in lungs and digestive tract Defective protein in the plasma membrane Tay Sachs Disease Missing enzymes that breaks down lipids Causes blindness, progressive loss of movement and mental deterioration Phenylketonuria (PKU) Missing enzyme needed to break down amino acid phenylalanine to a different amino acid tyrosine Damages central nervous system Cannot break down milk, results in retardation Tongue Rolling Hapsburg Lip - The lower lip and chin protrude, sometimes forcing the mouth open. Earlobe (Free-hanging) Hitchhiker’s Thumb Thick Lips Huntingtons Disease Double Jointedness Lethal, appears between ages 30 – 50 Breakdown of portions of the brain Incomplete Dominance Inheritance pattern where the phenotype of a heterozygote is intermediate between those of the 2 homozygotes Ex. RR (Red Flowers) x R’R’ (white flowers) = F1 offspring are pink R R R' RR' RR' R' RR' RR' With codominance, a cross between organisms with two different phenotypes produces offspring with a third phenotype in which both of the parental traits appear together. . All organisms have: Autosomes – non-sex chromosomes that carry all characteristics except sex Sex Chromosomes – two chromosomes that determine sex XX – Female, X is rod shaped XY – Male, Y is J or hook shaped Humans – 46 chromosomes Autosomes – 44 chromosomes Sex Chromosomes – 2 chromosomes Drosophila – 8 chromosomes Autosomes – 6 chromosomes Sex Chromosomes – 2 chromosomes Traits controlled by genes located on sex chromosomes Those carried on the X and Y chromosome 1. Hemophilia – free bleeders (X chromosome) Person lacks the gene needed for clotting of the blood 2. Colorblindness – not being able to determine the difference between colors, usually red and green, usually found in males, caused by recessive gene on X chromosome Both conditions are recessive and appear most often in males. A pedigree chart is used to trace genetic traits in families