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Understanding Genetic Disorders: Dominate & Recessive Traits

Explore the impact of dominate and recessive genes with examples of genetic diseases & disorders such as Dwarfism Polydactyl, Huntington’s Disease, Tay Sachs Disease, and more.

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Understanding Genetic Disorders: Dominate & Recessive Traits

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  1. Human Heredity

  2. Poll the AudienceYOYO: A.B.C. List 3 Genetic Diseases/Disorders

  3. Dominate Disorders Has one dominate gene. • PP ZZ Ll Oo

  4. Dwarfism

  5. Polydactyl: Many Digets Syndactyly

  6. Symrachyclactyly:Missing fingers

  7. Familial Hypercholesterdemia • Familial Hyper-cholesterolemia – High blood cholesterol and propensity for heart disease

  8. Hypertension

  9. Chronic Simple Glaucoma • Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and pressure builds up, leading to damageof the optic nerve which can result in blindness.

  10. Huntington’s Disease Huntington’s Disease Nervous system degeneration. Causes early death. Onset in middle age. Irregular gait Shaking Emotionally fragile Dementia

  11. Neurofibromatosis • Neurofibromatosis • Benign tumors in skin or deeper

  12. 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.

  13. Recessive Disorders Has 2 recessive genes.

  14. 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.

  15. Congenital Disorders • A congenital disorder, or congenital disease, is a condition before birth. Mental Retardation Club Foot Co-joined Twins Cleft Lip Down Syndrome

  16. 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%2Fth%3Fid%3DVN.608014211029929380%26pid%3D15.1&rurl=https%3A%2F%2Fwww.youtube.com%2Fwatch%3Fv%3DtPWPbGYIwBU&tit=YouTube+Conjoined+Twins+Abby+%26+Brittany+Hensel+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%2Bbrittany%2Bconjoined%2Btwins%26type%3Dastydef%26param1%3D1%26param2%3Dcd%253D2XzuyEtN2Y1L1QzutCzztDtAyBtA0Bzyzy0FyBzzyByE0B0FtN0D0Tzu0StCtDtCtDtN1L2XzutAtFtBtFtCtFyDtN1L1CzutCyEtBzytDyD1V1StN1L1G1B1V1N2Y1L1Qzu2StBtAyBtDzzzyzytBtGtAtCyC0CtGyDtDzyzytGyB0EtCyCtGyCyCtDyBzytB0FyBzztAyCtA2QtN1M1F1B2Z1V1N2Y1L1Qzu2SyE0EtB0A0D0ByDyDtGyByCyBtCtGyE0D0F0FtGzztCtAtAtG0DyByC0C0CyByEzz0CtB0FtD2Q%2526cr%253D332307325%2526ir%253D142905_b%2526elng%253Den%2526elcl%253Dus%2526a%253Dggfc%2526uref%253Dsp05%2526f%253D4%2526cat%253Dweb%2526ulng%253Den-US%25252Cen%25253Bq%25253D0.8%2526sid%253Dbe8c11df7dd34c7719fd966e5885d581%2526stype%253Dastydef%2526sesid%253Df5ea16941f3fbe17fd5fa9f3b9a9caec%2526csr%253D0%2526ipblock%253D0%2526b%253DChrome%2526bv%253D40.0.2214.94%2526os%253DWindows%252B7%2526cc%253Dus%2526ip%253D68.179.219.250%2526pa%253Dastromenda%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=bhttp://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%2Fth%3Fid%3DVN.608014211029929380%26pid%3D15.1&rurl=https%3A%2F%2Fwww.youtube.com%2Fwatch%3Fv%3DtPWPbGYIwBU&tit=YouTube+Conjoined+Twins+Abby+%26+Brittany+Hensel+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%2Bbrittany%2Bconjoined%2Btwins%26type%3Dastydef%26param1%3D1%26param2%3Dcd%253D2XzuyEtN2Y1L1QzutCzztDtAyBtA0Bzyzy0FyBzzyByE0B0FtN0D0Tzu0StCtDtCtDtN1L2XzutAtFtBtFtCtFyDtN1L1CzutCyEtBzytDyD1V1StN1L1G1B1V1N2Y1L1Qzu2StBtAyBtDzzzyzytBtGtAtCyC0CtGyDtDzyzytGyB0EtCyCtGyCyCtDyBzytB0FyBzztAyCtA2QtN1M1F1B2Z1V1N2Y1L1Qzu2SyE0EtB0A0D0ByDyDtGyByCyBtCtGyE0D0F0FtGzztCtAtAtG0DyByC0C0CyByEzz0CtB0FtD2Q%2526cr%253D332307325%2526ir%253D142905_b%2526elng%253Den%2526elcl%253Dus%2526a%253Dggfc%2526uref%253Dsp05%2526f%253D4%2526cat%253Dweb%2526ulng%253Den-US%25252Cen%25253Bq%25253D0.8%2526sid%253Dbe8c11df7dd34c7719fd966e5885d581%2526stype%253Dastydef%2526sesid%253Df5ea16941f3fbe17fd5fa9f3b9a9caec%2526csr%253D0%2526ipblock%253D0%2526b%253DChrome%2526bv%253D40.0.2214.94%2526os%253DWindows%252B7%2526cc%253Dus%2526ip%253D68.179.219.250%2526pa%253Dastromenda%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

  17. Congenital Deafness and Blindness

  18. Diabetes Mellitus

  19. Albinism

  20. Phenylketoneuria (PKU) • Inability to break down the amino acid phenylalanine. Must cut protein from diet • Results in serious mental retardation

  21. 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

  22. 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

  23. 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

  24. C. What careers can’t you do if you are color blind? B. How many people 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? A. What is color blindness? F. What countries have the most people that are color blind? G. Is there a cure for color blindness? Can it be prevented?

  25. Can You see the Number? Colorblindness is an X-linked recessive trait.

  26. Traits found on the X chromosome

  27. Genetics • The study of heredity and the variation of inherited characteristics

  28. Heredity • Passing on traits from parent to offspring.

  29. Phenotype • The physical characteristics of a trait. The one you see.

  30. Genotype • The genetic makeup of a trait

  31. Alleles • Any of several forms of a gene, that are responsible for hereditary variation. Height: Short –Tall Color Pink-white-mixed

  32. Gamete • Sperm or Ova (egg) that carries genetic that carries ½ the genetic material.

  33. Zygote • New creation formed by sperm and egg joining together

  34. Homozygous • Two identical alleles: WW or ww

  35. Heterozygous • Different alleles (traits) for a gene Ww

  36. 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 Bb BB Recessive Dominate

  37. NS = some of each SS = sickle cells NN = normal cells Co-dominance • The heterozygous condition, both alleles are expressed equally50/50 1:2 prob. • Sickle Cell Anemia in Humans sick

  38. Sickle Cell Anemia The disease occurs in 1 out of 500 African Americans. The disease occurs in 1 out of 36,000 Hispanic Americans

  39. Recessive • The trait, allele of a gene that is NOT expressed – the one you CANNOT see unless there is 2 recessive alleles: aa bb Bb BB RecessiveDominate

  40. RR = red rr = white Rr = pink Incomplete Dominance • The heterozygous is a blend between the dominant and recessive. • 75/25, 3 to 1 probability

  41. Trait A genetically determined Characteristics: Phenotype Is from your Genotype

  42. Karyotypes

  43. 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.

  44. Down syndrome is caused by a change in chromosome number. Changes in Chromosome Number and Structure

  45. Down syndrome (trisomy 21)

  46. The Frequency of Chromosome Non-Disjunction And Down Syndrome Rises Sharply with Maternal Age The phenomenon is clear – the explanation isn’t.

  47. // 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

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