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chromosome aberration in human 311456 biosocial genetics

????????. ?????? ????? ???????? 453020351-0?????? ?????? ????????? 453020386-1??????? ???????? ?????????????? ??????????????????. Chromosome Aberration ???????? 2 ?????? ???. ??????????????????????????????????? (Structural Aberation) ??????????????????????????????? (Numberical Abberation).

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chromosome aberration in human 311456 biosocial genetics

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    1. Chromosome Aberration in Human

    2. ???????? ?????? ????? ???????? 453020351-0 ?????? ?????? ????????? 453020386-1 ??????? ???????? ?????????????? ??????????????????

    3. Chromosome Aberration ???????? 2 ?????? ??? ??????????????????????????????????? (Structural Aberation) ??????????????????????????????? (Numberical Abberation)

    4. ?????: http://www.snr.ac.th/elearning/siriporn/sec.05p01.htm

    5. ?????: http://www.snr.ac.th/elearning/siriporn/sec.05p01.htm

    6. ??????????????????????????????????? ? Trisomy 52 % 45 X 18 % Triploid 17% Tetraploid 6% Unbalance translocation 3% Other 4%

    7. ????????????????????? 21 ???????????????? 1 ???? ???????????????? 21 ?? 3 ???????? ???????? Trisomy 21 ??????????????? 47 ???? ?????? ?????????????????????????????????????(autosome) ???????????????????????????? ???????????????????????????????????????????????????? ?????????????????????????????????????????????? mitosis

    8. Mikkelsen (1980) ????????????????????????????????????????????????????? 20% ???????????? Down syndrome ??????????????????????????????????????????????? ???????????????????????????????????? ?????????????????? meiosis I

    9. ????? ????????? ????????? ???????????????? ???????????? ?????????? ??????????????? ????????????? ??????????????

    10. ????????????? Down syndrome ?????: http://www.ipst.ac.th/biology/vol2.htm

    11. ?????????????????? Down syndrome ?????????? - ???????????????????????????? 35 ???????? ????????????????? - ????????????????????????????????????????????????????

    13. ??????????????????????? ??????????????? alpha-feto-protein ?? serum ?????? - alpha feto-protein ????????????????? fetal ???????????????????? ??????????????????????????? - ????????? alpha feto-protein ??? neural tube ??? fetal ???????????????? ???? spina bifida (open spine) or anencephaly (absence of the brain) - ????????? alpha feto-protein ??? fetal ?????????????????????? Down syndrome

    14. Penrose (1965) ????????????????????????????????? Down syndrome ????????????? ??????????????trisomic zygote ?????????????????????????????????? ????????? spindle fiber ????????????????????? ???????????????????????? ????????????????????? ???? ??????????? ???????????????? ?????????????

    15. Trisomy 18 (E syndrome) Edwards syndrome ????????????????????????????????? E (16-18)???????? E-trisomy ??????????? 18 ?????? 1 ???? ?????????? 47 ???? ???????????????? (?????? Down syndrome) ???????????????????????????? 6 ????? ??????????????????? 15 ?????????????

    16. ??????????????????? ???????????? ??????????? ????? ????????? ???????/??????????? 2 ???3 ????3 ??? 4 ???????????? ???????????????? ???????????? ??????????? ??????????? rocker bottom

    17. ????????????? E syndrome http://www.ipst.ac.th/biology/vol2.htm

    18. Trisomy 13 (Patou syndrome or D-syndrome) ????? K.Patou ??????????????????????? D ???????? D-syndrome ??????????? 13 ?????? 1 ???? ?????????????????????????????????? ???????????????????????????????????? 2-3???

    19. ??????????????????? ????????? ???????? ?????? ??????????????? ???????? Rocker bottom feet

    20. Cri-Du Chat Syndrome ???? Cat, cry syndrome ????????????????????????????????????????? ????????????????????????? 5 ?????? ?????????? 46 ????

    21. ??????????????????? ????????? ????????? ??????? ??????????? ?????????????????

    22. ????????????? Cri-Du Chart syndrome http://www.ipst.ac.th/biology/vol2.htm

    23. Chromosome Breakage Conditions Fanconima anemia (FA) * Excess Chromosomal breakage in cultured cells ????????????? * ??????????????????? * ?????????????????? ???? ???????????? * ??????????????????????????? ?????????????????? * ????? ??? ?? ????????????? * ???????? Fetal hemoglobin ??? ??? ??????????????????????????????? ???????? leukemia

    24. Bloom syndrome (BS) ?????? 1.?????????????????????????? sister chromatid ???????? 2. ??????????????????????????????????????????? ultraviolet ????????????? - ???? , ?????????????????????? - ??????????????? telangiectasia

    25. Bloom Syndrome

    26. Xeroderma pigmentosum (XP) ?????????????? ????????????? ???????????????? ????????????????????????? ???????????? ????????????????????? ??????????????????????? * ??????????? ?????????????????????????????????? - ??????????? utreaviolet ??? ???????????? (carcinogen) ???????????????????????? - ??????????????????????????????? sister chromstid ????????????????????????????????????????????????????

    27. Xeroderma pigmentosum

    28. Ataxia-telangiectasia (AT) or Louis Bar syndrome ???? auto recessivegenetic syndrome ????????????? * ????????????????????????? ??????????????????(cerebellar) ??? telangiectases * ?????????????????????????????????? 10 % of individauls lymphatic cancer develops ???????????????? 20?? * ?????? premature ????????????????? lymphocytes ????????????????????? ??? non-random ??????????????? AT ???????????????????????? DNA ???????????????????

    30. Chromosome Defect and High- Resolution Band Tecnique ????????????????????????????????????????????????? Examples - retinoblastoma - prader willi syndrome

    31. Retinoblastoma

    32. Retinoblastoma ???? tumor ??????????? retina ???????????????????????????? Malignancy ???? osteosarcoma ????? Rb gene ??????????????????????????? Retinoblastoma ??? ?????? 2 ???????????????? two hit model proposed by Khudson U. of Texas ?? 1971

    33. Retinoblastoma (???)

    35. Chromosomal Abnormalities and Cancer In 1960 , Nowell and Hungerford ????? * Myelogenous leukemia Chromosome 22 Shorten version * Reciprocal translocation between Chromosome 9 and 22

    36. Philadelphia chromosome

    37. Burkitt Lymphoma ????????????????? Central Africa ??????????? Oncogene ??? Chromosome defect ??????????? - ????????????????????? ?????? - ????? translocation ??????? ?????????????? 8 ??? 14 - ????????? C- myc gene (?????? B-cell) ????????????????? 8 ?????????? 24 ??????????????????? 14 ?????????? 32 - ??? transcription ??? C- myc gene ????????? 30 ???? Malignant growth

    38. Disorder of the Sex Chromosomes Kleinefelter syndrome (47 , XXY) ???? ???????? X ??????? 2 ??? ???? 48 , XXYY , 49,XXXXY ????? * ?????????????????????????? ???? ???????? ???????????? ??????????? ???????? * ??????????????? : ???????????????? ???????????????????????? ????????????????????????? * ???????? : ????????????????????? 25 ?????????????????????? X ??????? * ???????? : ??????????????? , ???????

    39. Kleinefelter syndrome (47 , XXY)

    40. Kleinefelter syndrome (47 , XXY) (???) ??????????? 90 XXY boys , 8-14 years old ????? IQ ??????????? ??????????????????? ???????????????????? ????? ?????? * ???? 1956 ??????? Barr body ??????????????????????????

    41. Poly X Female ?????????????????? X ??????? 2 ??? ?????? 47,XXX , 48,XXXX ??? 49,XXXXX ???????????????????? Chomosome : ???? Nundisjunction ???????????????????????????????????????? Chomosome ????? : ???????????????????????????????? ????????????????????????? ?????????????????????? X ???????

    42. Turners Syndrome ????????? ???????????????????? ??? 45,XO ???? Monosomy ???????????????????????????????????? ??????????? * ????????????????????????? ?????????????????????? * ???????????????? ????????????????????????????????????????? * ?????????????????????????? ?????????????????????????? * ????? ,??????????????,???????????????????????? * ??????????????? , ???????????????????? ?????????

    43. Karyotype of an individual with Turners syndrome

    44. Turners syndrome

    45. The XYY Anomaly ?????????????????????????????????????? 3.5 %???????????????????????????????? ???? ????? ???????????????????????????? ?? 2 ??? - Nondisjunction ????????????????????? - Nondisjunction ??? Zygote

    46. ????? ??????? : ?????? ?????????????? : ???????????? ???????? : ??????????? ????????????????? : ????????????? ???????? ??????????? 59 XYY boys , ???? 5 - 13 ??????? ???????????????????????????????????????? ????????????? ??????????????????

    47. ?????????? Carpena L. A., Espino R. R.C., Rosario T. L. and Laude R. P. 1993. Genetics at the Population Level. SEAMIO SEARCA, Phillipines. ????? ???????????. 2525. ???????????. ?????????????2. ????????????? ?????????? ?????, ????????. ????? ?????????. 2520. ??????????????????????????. ?????????????1. ???.

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