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Chromosomes and Inheritance

Chromosomes and Inheritance. BIO 1113/1114 Oklahoma City Community College Dennis Anderson. Hemophilia. Blood clotting impaired Recessive allele, h carried on X cms X-linked recessive trait More common in males. X-linked Recessive Traits. Alleles are on the X chromosome

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Chromosomes and Inheritance

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  1. Chromosomes and Inheritance BIO 1113/1114 Oklahoma City Community College Dennis Anderson

  2. Hemophilia Blood clotting impaired Recessive allele, h carried on X cms X-linked recessive trait More common in males

  3. X-linked Recessive Traits • Alleles are on the X chromosome • Inheritance pattern different in males and females

  4. XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophilic Female XHy = Normal Male Xhy = Hemophiliac Male

  5. 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.

  6. XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophilic Female XHy = Normal Male Xhy = Hemophiliac Male XH XH Xh XH Xh XH Xh XHy XHy y

  7. XH XH Xh XH Xh XH Xh XHy XHy y Genotypes 2 XH Xh, 2XHy Phenotypes 2 Carrier Females 2 Normal Males Probability O% for Hemophilia

  8. A normal man marries a woman who is a carrier for hemophilia. What is the chance their children will inherit hemophilia?

  9. XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophilic Female XHy = Normal Male Xhy = Hemophiliac Male XH XH XH Xh XHy Xhy XH Xh XH y

  10. XH Xh Genotypes XH XH , XH Xh, XHy, Xhy XH XH XH XH Xh Phenotypes 2 Normal Females 1 Normal Males 1 Male Hemophiliac XHy Xhy y Probability 50% for Male Hemophilic 0% for Female Hemophilic

  11. Fertilization

  12. Nondisjunction One pair of chromosomes fails to separate during meiosis

  13. Trisomy Zygote ends up with 3 chromosomes instead of 2 for a given chromosome pair.

  14. Karyotype • Picture of chromosomes • Often arranged with autosomes in descending order and sex chromosomes separate

  15. Normal Male

  16. Normal Female

  17. Trisomy 21Down Syndrome

  18. Down Syndrome • Large tongue • Flat face • Single crease across palm • Slanted eyes • Mental retardation • Some are not

  19. Maternal Age & Down Syndrome

  20. Trisomy 18Edward Syndrome

  21. Edward Syndrome • Heart defects • Displaced liver • Abnormal hands • Low-set ears • Severe retardation • 98% abort • Lifespan < 1 year

  22. Trisomy 13Patau Syndrome

  23. Patau Syndrome • Cleft lip and palate • Extra fingers & toes • polydactylism • Defects • Heart • Brain • Kidney • Most abort • Live span < 1 month

  24. Klinefelter Syndrome

  25. Klinefelter Syndrome • Breast development • Small testes • Sterile • Some have low intelligence • Not retarded

  26. Turner Syndrome

  27. Turner Syndrome • Short • Not go through pruberty • Produce little estrogen • Sterile • Extra skin on neck

  28. Jacobs Syndrome

  29. Jacobs Syndrome • Xyy • Tall • Acne

  30. Abnormal Chromosome Numbers • Aneuploidy • Missing or extra chromosome • Polyploidy • Extra set of chromosomes • Usually lethal • Common in cancer • Common in plants

  31. Amniocentesis can determine abnormal karyotypes

  32. Translocation • Part of a chromosome attaches to a nonhomologous chromosome

  33. Translocation of Between Chromosomes 1 and 3 • Part of chromosome 3 attached to chromosome 1 • Acute myeloid leukemia

  34. Part of a chromosome is inverted A B C D E F G H I J Inversion A B C D E F I H G J

  35. Inversion of Chromosome 16 • Acute myeloid leukemia

  36. Deletion • Part of a chromosome is deleted

  37. Cat Cry Syndrome • Deletion of part of chromosome 5 • High-pitched cry like a cat • Large ears • Retarded

  38. Part of a chromosome is duplicated A A B B C C D D E E F F G G H H I I J J Duplication I J

  39. Chromosome 10q duplication syndrome • Mental retardation • Defects in many organs • Heart • Kidneys • Bones • Muscles • Life span less than 1 year

  40. The End

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