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- 1. Medical Genetics www.freelivedoctor.com
- 2. Mitosis <ul><li>Produces daughter cells with 46 chromosomes </li></ul><ul><li>Used in growth and repair </li></ul>www.freelivedoctor.com
- 3. Mitosis <ul><li>DNA is duplicated </li></ul><ul><li>Doubled chromosomes form from duplicated DNA </li></ul><ul><li>Each cms has 2 identical chromatids </li></ul>www.freelivedoctor.com Chromatid Chromatid
- 4. Chromosomes line up in a single row. Mitosis Metaphase www.freelivedoctor.com
- 5. Chromosomes separate Each chromatid becomes a single chromosome www.freelivedoctor.com
- 6. Meiosis <ul><li>Reduce the chromosome number to half that of body cells </li></ul><ul><li>Produce gametes </li></ul><ul><ul><li>Egg </li></ul></ul><ul><ul><li>Sperm </li></ul></ul>www.freelivedoctor.com
- 7. Chromosomes line up in a double row. Meiosis Metaphase www.freelivedoctor.com
- 8. Chromosomes separate Each each daughter cell gets doubled chromosomes www.freelivedoctor.com
- 9. Doubled Chromosomes Separate in Second Meiotic Division www.freelivedoctor.com
- 10. www.freelivedoctor.com Mitosis Metaphase Meiosis Metaphase
- 11. Double Filed Chromosomes <ul><li>Daughter cells receive ONE of each cms pair </li></ul><ul><li>Daughter cells receive ONE allele for most traits </li></ul><ul><li>New combinations of alleles possible </li></ul>www.freelivedoctor.com Cms 1 Cms 1 Cms 2 Cms 2
- 12. Gene <ul><li>A unit of heredity that controls the development of one trait </li></ul><ul><li>Made of DNA </li></ul>www.freelivedoctor.com
- 13. Allele <ul><li>Member of a paired gene </li></ul><ul><ul><li>One allele comes from each parent </li></ul></ul><ul><li>Represented by a single letter </li></ul>www.freelivedoctor.com
- 14. Examples of Alleles Dwarfism = D Normal height = d DD = Dwarfism Dd = Dwarfism dd = Normal height www.freelivedoctor.com Dwarf Band
- 15. Dominant & Recessive Alleles <ul><li>Dominant alleles are expressed </li></ul><ul><li>Recessive alleles are not expressed in the presence of a dominant allele </li></ul><ul><ul><li>Recessive alleles are only expressed if both recessive alleles are present </li></ul></ul>www.freelivedoctor.com
- 16. Homozygous <ul><li>Both alleles alike </li></ul><ul><li>AA or aa </li></ul>www.freelivedoctor.com
- 17. Heterozygous <ul><li>Alleles are different </li></ul><ul><li>Aa </li></ul>www.freelivedoctor.com
- 18. Genotype <ul><li>Genetic make up </li></ul><ul><li>Represented by alleles </li></ul><ul><li>DD & Dd are genotypes for dwarfism </li></ul>www.freelivedoctor.com
- 19. Phenotype <ul><li>A trait </li></ul><ul><li>Genotype determines the phenotype </li></ul><ul><li>Dwarfism is a phenotype </li></ul>www.freelivedoctor.com
- 20. Codominant <ul><li>Two different alleles are both dominant </li></ul><ul><li>A = allele for type A blood </li></ul><ul><li>B = allele for type B blood </li></ul><ul><li>AB = results in type AB blood </li></ul>www.freelivedoctor.com
- 21. Karyotype <ul><li>Picture of chromosomes from an individual </li></ul>www.freelivedoctor.com
- 22. Homologous Chromosomes <ul><li>Chromosomes of the same pair </li></ul><ul><li>Karyotypes are usually arranged with homologous chromosomes paired together </li></ul>www.freelivedoctor.com
- 23. Mutation <ul><li>Change in a gene or chromosome </li></ul><ul><li>Causes an abnormal trait </li></ul>www.freelivedoctor.com
- 24. Mutagen Agent that causes mutations www.freelivedoctor.com Cigarette smoke Pesticides X-rays Ulatraviolet light Nuclear radiation
- 25. Homologous chromosomes line up in a double file in metaphase I of meiosis www.freelivedoctor.com
- 26. Homologous Pairs Separate www.freelivedoctor.com
- 27. Four Gametes With Single Chromosomes www.freelivedoctor.com
- 28. Fertilization www.freelivedoctor.com
- 29. Nondisjunction www.freelivedoctor.com
- 30. Trisomy www.freelivedoctor.com
- 31. Sex Chromosomes www.freelivedoctor.com
- 32. Sex Chromosomes <ul><li>Male have Xy </li></ul><ul><ul><li>Male gametes have either X or y </li></ul></ul><ul><li>Females have XX </li></ul><ul><ul><li>Female gametes have X </li></ul></ul>www.freelivedoctor.com
- 33. Autosomes Chromosomes 1-22 www.freelivedoctor.com
- 34. X-Linked Traits <ul><li>Alleles are on the X chromosome </li></ul><ul><li>Females have two alleles </li></ul><ul><li>Males have one allele </li></ul><ul><ul><li>Only one X chromosome </li></ul></ul>www.freelivedoctor.com
- 35. Normal Male www.freelivedoctor.com
- 36. Normal Female www.freelivedoctor.com
- 37. Trisomy 21 Down Syndrome www.freelivedoctor.com
- 38. Down Syndrome <ul><li>Large tongue </li></ul><ul><li>Flat face </li></ul><ul><li>Slanted eyes </li></ul><ul><li>Single crease across palm </li></ul><ul><li>Mental retardation </li></ul><ul><ul><li>Some are not </li></ul></ul>www.freelivedoctor.com
- 39. Maternal Age & Down Syndrome www.freelivedoctor.com
- 40. Trisomy 18 Edward Syndrome www.freelivedoctor.com
- 41. Edward Syndrome <ul><li>Heart defects </li></ul><ul><li>Displaced liver </li></ul><ul><li>Low-set ears </li></ul><ul><li>Abnormal hands </li></ul><ul><li>Severe retardation </li></ul><ul><li>98% abort </li></ul><ul><li>Lifespan < 1 year </li></ul>www.freelivedoctor.com
- 42. Trisomy 13 Patau Syndrome www.freelivedoctor.com
- 43. Patau Syndrome <ul><li>Cleft lip and palate </li></ul><ul><li>Extra fingers & toes </li></ul><ul><ul><li>polydactylism </li></ul></ul><ul><li>Defects </li></ul><ul><ul><li>Heart </li></ul></ul><ul><ul><li>Brain </li></ul></ul><ul><ul><li>Kidneys </li></ul></ul><ul><li>Most abort </li></ul><ul><li>Live span < 1 month </li></ul>www.freelivedoctor.com
- 44. Klinefelter Syndrome www.freelivedoctor.com
- 45. Klinefelter Syndrome <ul><li>Breast development </li></ul><ul><li>Small testes </li></ul><ul><li>Sterile </li></ul><ul><li>Low intelligence </li></ul><ul><ul><li>Not retarded </li></ul></ul>www.freelivedoctor.com Klinefelter Website
- 46. Turner Syndrome www.freelivedoctor.com
- 47. Turner Syndrome <ul><li>Short </li></ul><ul><li>Not go through pruberty </li></ul><ul><li>Produce little estrogen </li></ul><ul><li>Sterile </li></ul><ul><li>Extra skin on neck </li></ul>www.freelivedoctor.com
- 48. Fetal Testing www.freelivedoctor.com
- 49. Sickle Cell Anemia <ul><li>RBCs sickle shaped </li></ul><ul><li>Anemia </li></ul><ul><li>Pain </li></ul><ul><li>Stroke </li></ul><ul><li>Leg ulcers </li></ul><ul><li>Jaundice </li></ul><ul><li>Gall stones </li></ul><ul><li>Spleen, kidneys & lungs </li></ul>www.freelivedoctor.com
- 50. Sickle Cell Anemia <ul><li>Recessive allele, s codes for hemoglobin S </li></ul><ul><ul><li>Long rod-like molecules </li></ul></ul><ul><ul><li>Stretches RBC into sickle shape </li></ul></ul><ul><li>Homozygous recessive, ss have sickle cell anemia </li></ul><ul><li>Heterozygous, Ss are carriers </li></ul>www.freelivedoctor.com
- 51. Hemophilia <ul><li>Blood clotting impaired </li></ul><ul><li>Recessive allele, h </li></ul><ul><li>carried on X cms </li></ul><ul><li>X-linked recessive trait </li></ul><ul><li>More common in males </li></ul>www.freelivedoctor.com
- 52. Albinism <ul><li>Lack of pigment </li></ul><ul><ul><li>Skin </li></ul></ul><ul><ul><li>Hair </li></ul></ul><ul><ul><li>Eyes </li></ul></ul>www.freelivedoctor.com
- 53. Amino Acids Melanin Pigment Enzyme www.freelivedoctor.com A a AA = Normal pigmentation Aa = Normal pigmentation aa = Albino
- 54. PKU Disease <ul><li>Phenylalanine excess </li></ul><ul><li>Mental retardation if untreated </li></ul>www.freelivedoctor.com Molly’s Story
- 55. Phenylalanine Tyrosine Enzyme www.freelivedoctor.com P p PP = Normal Pp = Normal pp = PKU
- 56. A man & woman are both carriers (heterozygous) for albinism. What is the chance their children will inherit albinism? www.freelivedoctor.com
- 57. Man = Aa Woman = Aa www.freelivedoctor.com AA = Normal pigmentation Aa = Normal pigmentation (carrier) aa = Abino A a a A
- 58. AA Aa Aa aa www.freelivedoctor.com A a a A
- 59. Genotypes 1 AA, 2Aa, 1aa Phenotypes 3 Normal 1 Albino Probability 25% for albinism www.freelivedoctor.com AA Aa Aa aa
- 60. A man & woman are both carriers (heterozygous) for PKU disease. What is the chance their children will inherit PKU disease? www.freelivedoctor.com
- 61. p p P P www.freelivedoctor.com PP P p P p pp PP = Normal Pp = Normal (carrier) pp = PKU disease
- 62. Genotypes 1 PP, 2Pp, 1pp Phenotypes 3 Normal 1 PKU disease Probability 25% for PKU disease www.freelivedoctor.com PP Pp Pp pp
- 63. A man with sickle cell anemia marries a woman who is a carrier. What is the chance their children will inherit sickle cell anemia? www.freelivedoctor.com
- 64. s s s S www.freelivedoctor.com Ss Ss ss ss SS = Normal Ss = Normal (carrier) ss = Sickle Cell
- 65. Genotypes 2 Ss, 2ss Phenotypes 2 Normal (carriers) 2 Sickle cell Probability 50% for Sickle cell www.freelivedoctor.com Ss Ss ss ss
- 66. A man with heterozygous dwarfism marries a woman who has normal height. What is the chance their children will inherit dwarfism? Dwarfism is dominant. www.freelivedoctor.com
- 67. d d D d www.freelivedoctor.com Dd dd Dd dd DD = Dwarf Dd = Dwarf dd = Normal
- 68. Genotypes 2 Dd, 2dd Phenotypes 2 Normal 2 Dwarfs Probability 50% for Dwarfism www.freelivedoctor.com Dd dd Dd dd
- 69. X-linked Recessive Traits <ul><li>Alleles are on the X chromosome </li></ul><ul><li>Inheritance pattern different in males and females </li></ul>www.freelivedoctor.com
- 70. www.freelivedoctor.com X H X H = Normal Female X H X h = Normal Female (Carrier) X h X h = Hemophilic Female X H y = Normal Male X h y = Hemophiliac Male
- 71. A man with hemophilia marries a normal woman who is not a carrier. What is the chance their children will inherit hemophilia? Hemophilia is X-linked recessive. www.freelivedoctor.com
- 72. y X H X h X H X h X H X H X h X H y X H y www.freelivedoctor.com X h X H = Normal Female X H X h = Normal Female (Carrier) X h X h = Hemophilic Female X H y = Normal Male X h y = Hemophiliac Male
- 73. Genotypes 2 X H X h , 2 X H y Phenotypes 2 Carrier Females 2 Normal Males Probability O% for Hemophilia www.freelivedoctor.com y X H X h X H X h X H X H X h X H y X H y
- 74. A normal man marries a normal woman who is a carrier for hemophilia. What is the chance their children will inherit hemophilia? www.freelivedoctor.com
- 75. y X h X H X H www.freelivedoctor.com X h X H = Normal Female X H X h = Normal Female (Carrier) X h X h = Hemophilic Female X H y = Normal Male X h y = Hemophiliac Male X H X H X H X h X H y X h y
- 76. Genotypes X H X H , X H X h, X H y, X h y Phenotypes 2 Normal Females 1 Normal Males 1 Male Hemophiliac Probability 50% for Male Hemophilic 0% for Female Hemophilic y X h X H X H X H X H X H X h X H y X h y www.freelivedoctor.com
- 77. The End www.freelivedoctor.com

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