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Human Heredity Poll the Audience YOYO: A.B.C. List 3 Genetic Diseases/Disorders Dominate Disorders Has one dominate gene. •PP ZZ Ll Oo Dwarfism Polydactyl: Many Digets Syndactyly Symrachyclactyly: Missing fingers Familial Hypercholesterdemia • Familial Hyper-cholesterolemia – High blood cholesterol and propensity for heart disease Hypertension Chronic Simple Glaucoma • Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and pressure builds up, leading to damage of the optic nerve which can result in blindness. Huntington’s Disease Huntington’s Disease Nervous system degeneration. Causes early death. Onset in middle age. Irregular gait Shaking Emotionally fragile Dementia Neurofibromatosis • Neurofibromatosis • Benign tumors in skin or deeper Progeria • Progeria – Drastic premature aging, rare, die by age 13. Symptoms include limited growth, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but mental development not affected. Recessive Disorders Has 2 recessive genes. Examples of Recessive Disorders • Tay Sachs Disease – Lacks of enzyme needed to break down lipids necessary for normal brain function. • Common in Ashkenazi Jews • Blindness, seizures, paralysis, and early death. Congenital Disorders • A congenital disorder, or congenital disease, is a condition before birth. Mental Retardation Club Foot Co-joined Twins Cleft Lip Down Syndrome http://video.search.yahoo.com/video/play?p=youtube%3A+abby+and+brittany+conjoined+twins&vid=cccb340ce1e1cb3a385bbf4f36095d41&l=5%3A04&turl=http%3A%2F%2Fts1.mm.bing.net%2 Fth%3Fid%3DVN.608014211029929380%26pid%3D15.1&rurl=https%3A%2F%2Fwww.youtube.com%2Fwatch%3Fv%3DtPWPbGYIwBU&tit=YouTube+Conjoined+Twins+Abby+%26+Brittany+H ensel+turn+16&c=7&sigr=11bkcdvn6&sigt=11mndlt39&sigi=11r0ihq0k&back=http%3A%2F%2Fus.yhs4.search.yahoo.com%2Fyhs%2Fsearch%3Fp%3Dyoutube%253A%2Babby%2Band%2Bbrit tany%2Bconjoined%2Btwins%26type%3Dastydef%26param1%3D1%26param2%3Dcd%253D2XzuyEtN2Y1L1QzutCzztDtAyBtA0Bzyzy0FyBzzyByE0B0FtN0D0Tzu0StCtDtCtDtN1L2XzutAtFtBt FtCtFyDtN1L1CzutCyEtBzytDyD1V1StN1L1G1B1V1N2Y1L1Qzu2StBtAyBtDzzzyzytBtGtAtCyC0CtGyDtDzyzytGyB0EtCyCtGyCyCtDyBzytB0FyBzztAyCtA2QtN1M1F1B2Z1V1N2Y1L1Qzu2SyE0 EtB0A0D0ByDyDtGyByCyBtCtGyE0D0F0FtGzztCtAtAtG0DyByC0C0CyByEzz0CtB0FtD2Q%2526cr%253D332307325%2526ir%253D142905_b%2526elng%253Den%2526elcl%253Dus%2526a %253Dggfc%2526uref%253Dsp05%2526f%253D4%2526cat%253Dweb%2526ulng%253DenUS%25252Cen%25253Bq%25253D0.8%2526sid%253Dbe8c11df7dd34c7719fd966e5885d581%2526stype%253Dastydef%2526sesid%253Df5ea16941f3fbe17fd5fa9f3b9a9caec%2526csr%25 3D0%2526ipblock%253D0%2526b%253DChrome%2526bv%253D40.0.2214.94%2526os%253DWindows%252B7%2526cc%253Dus%2526ip%253D68.179.219.250%2526pa%253Dastromend a%26hsimp%3Dyhs-fullyhosted_003%26hspart%3Diry%26ei%3DUTF-8&sigb=1qauvn3ve&ct=p&age=1289524016&fr2=p%3As%2Cv%3Av&hsimp=yhs-fullyhosted_003&hspart=iry&tt=b 5 min video conjoined teenage girls Congenital Deafness and Blindness Diabetes Mellitus Albinism Phenylketoneuria (PKU) • Inability to break down the amino acid phenylalanine. Must cut protein from diet • Results in serious mental retardation Cystic Fibrosis Cystic Fibrosis – affects mucus and sweat glands, thick mucus in lungs and digestive tract that interferes with gas exchange, lethal. https://www.youtube.com/watch?v=kCSjfxm1jgY Multiple Alleles • There are more than 2 alleles for a trait • Blood type in humans • Blood Alleles? – A, B, O • Blood Types? – Type A, Type B, Type AB, Type O Rules for Blood Type • A and B are codominant – AA = Type A – BB = Type B – AB = Type AB • A and B are dominant over O – AO = type A – BO = type B – OO = type O A. What is color blindness? B. How many people are color blind? C. What careers can’t you do if you are color blind? D. Who is more likely to be color blind? Boys/girls? E. What are the most colors that color blind people can’t see? F. What countries have the most people that are color blind? G. Is there a cure for color blindness? Can it be prevented? Can You see the Number? Colorblindness is an X-linked recessive trait. Traits found on the X chromosome Genetics • The study of heredity and the variation of inherited characteristics Heredity • Passing on traits from parent to offspring. Phenotype • The physical characteristics of a trait. The one you see. Genotype • The genetic makeup of a trait Alleles • Any of several forms that are responsible for hereditary variation. Height: Short –Tall Color Pink-white-mixed of a gene, Gamete • Sperm or Ova (egg) that carries genetic that carries ½ the genetic material. Zygote • New creation formed by sperm and egg joining together Homozygous • Two identical alleles: WW or ww Heterozygous • Different alleles (traits) for a gene Ww Dominant • The trait, allele of a gene that is expressed – the one you can see if there is a dominant allele: W or Ww. aa bb Recessive Bb BB Dominate Co-dominance • The heterozygous condition, both alleles are expressed equally 50/50 1:2 prob. • Sickle Cell Anemia in Humans NN = normal cells SS = sickle cells NS = some of each Sickle Cell Anemia The disease occurs in 1 out of 500 African Americans. The disease occurs in 1 out of 36,000 Hispanic Americans Recessive • The trait, allele of a gene that is NOT expressed – the one you CANNOT see unless there is 2 recessive alleles: aa bb Recessive Bb BB Dominate Incomplete Dominance • The heterozygous is a blend between the dominant and recessive. • 75/25, 3 to 1 probability RR = red rr = white Rr = pink Trait A genetically determined Characteristics: Phenotype Is from your Genotype Karyotypes Karyotypes • Maps of chromosomes • 22 homologous pairs of human chromosomes • Sex Chromosomes are the 23rd pair of chromosomes that determine the sex of an individual. Changes in Chromosome Number and Structure Down syndrome is caused by a change in chromosome number. Down syndrome (trisomy 21) The Frequency of Chromosome Non-Disjunction And Down Syndrome Rises Sharply with Maternal Age The phenomenon is clear – the explanation isn’t. // HOW BABY GROWS IN THE WOMB DURING PREGNANCY How TWINS are made? (Triples, Quads) https://www.youtube.com/watch?v=DZsZ9vXFx04 https://www.youtube.com/watch?v=DZsZ9vXFx04 https://www.youtube.com/watch?v=DZsZ9vXFx04 Pre-Implantation Genetic Diagnosis (PGD) Removing a cell for diagnosis from a human embryo. Amniocentesis and Chorionic Villus Sampling Many new techniques for learning about individual genes rather than whole chromosomes are available or under development. Choose the sex of your child Dolly: In 1996, Ian Wilmut cloned Dolly from an adult sheep CopyCat • In February 2002, researchers from Texas A & M reported the live birth of a cloned tabby. • Researchers are interested in using cloned cats in AIDS research, since feline AIDS is a good model for human AIDS. What kind of plants and animals have been cloned?