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ISHIHARA TEST

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ISHIHARA TEST

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    1. ??.??.????? ? ???/311243 1 ISHIHARA TEST (????????????)

    2. ??.??.????? ? ???/311243 2 ?????? ????????????????? (Human Genetics) ???????? 311243 ??.??.????? ? ???

    3. ??.??.????? ? ???/311243 3 ????????????????? 1. ?????????????????. ???? ??????????? 2542. 2. Current perspectives in genetics : Insights and applications in molecular, classical, and human genetics. Cumming S. 2000. 3. Principles of medical genetics. 1998. Gelehrter, TD et al. 4. Molecular Medicine : An introductory text. 1997. Trent RJ. Websites: http://www/biology/arizona.edu/ http://www/biology/arizona.edu/human_bio/activities/karyotyping/karyotypingohtm/ http://ncbi.nlm.nih.gov/omim/

    4. ??.??.????? ? ???/311243 4 ?????????????????????????????????????? 1. ??????????????????????????????????????????????? ?????????????????????????????????????? ??????????????????????? ??????????????????????????????????????? 2. ???????????????????????????????????????????????? ??? 3. ????????????????????????????????????????????????????????

    5. ??.??.????? ? ???/311243 5 ?????????? 1. ????????????????????????????????????????? 2. ?????????????????????????? 3. ?????????????????????????????????????????? 4. ??????????????????????????: *Single gene disorders *Polygenic disorders *Multifactorial disorders *Chromosomal disorders

    6. ??.??.????? ? ???/311243 6 ?????????????????????????? (Mendel vs. Human Genetics) ?????????????????????????????????????????? * ????????????????????????????????????? * ?????????????????????????/????????????????? * ?????????????????????????????????????????????

    7. ??.??.????? ? ???/311243 7 ????????????????????????????????? ????????? / ??? (????), ????? (???????, ????????) ?????? ???/?????

    8. ??.??.????? ? ???/311243 8 ?????????????????????????????????????????????? 1. ???????????????????????????????????????? 2. ????????????????????????????????????????????????? 3. ????????????????????????????? (pedigree; ????????????????) 4. ???????????????????????????????/??????????????????????????????????????????????????????????????????????????????????

    9. ??.??.????? ? ???/311243 9 1865Mendel Laws of segregation and assortment of factors that determine difficult traits. 1866DownClinical description of Down syndrome. 1872HuntingtonClinical description of Huntington disease. 1882FlemingHuman chromosome drawing. 1900Correns et al. Mendels laws rediscovered. 1901LandsteinerABO blood group discovered. 1908GarrodInborn errors of metabolism introduced as causes of diseases. 1920FanconiClinical description of cystic fibrosis. 1925WilsonColor blindness gene in humans assigned to X chromosome.

    10. ??.??.????? ? ???/311243 10 1927LandsteinerMN blood group. 1949Bar & BertramDescription of sex chromatin. PaulingIntroduction of molecular diseases; sickle cell anemia. 1956Levan & TijoChromosome number in man is 46. 1959Nowell & HungerfordPhiladelphia chromosome identified in chronic myelogenous leukemia (CML). LejeuneTrisomy 21 described in Down syndrome. Ford45,X chromosomes constitution associated with Turner syndrome.

    11. ??.??.????? ? ???/311243 11 Jacobs45,XXY chromosomes constitution associated with Klinefelter syn. PatauDescription of Trisomy 13 syndrome. EdwardsDescription of Trisomy 18 syndrome. 1960Polani & FraccaroDown syndrome due to translocation of chromosomes. 1979GoeddelSynthesized human insulin in E. coli. 1979Goodman et al. Synthesized human growth hormone in E.coli.

    12. ??.??.????? ? ???/311243 12 1990AndersonFirst attempted human gene therapy. HallInherited breast cancer linked to region on long arm of chromosome 17. 1991Hagerman and SilvermanCharacterized fragile X syndrome. 1993GusellaLocalized gene for Huntington disease to chromosome 4. 1994MikiBRCA1 gene identified as tumor suppressor gene on chromosome 17q21.

    13. ??.??.????? ? ???/311243 13 Achievement of one of the first goals of Human Genome Project : A comprehensive, high density genetic map. 1998Human Genetic Protect leaders announce intent to finish Human Genome sequencing two years early. 1999Resequencing and mutational analysis using oligonucleotide microarrays. 2000-2004..

    14. ??.??.????? ? ???/311243 14 ??????????????????????????? (normal) ????????????????????????? ?????????? (Recessive) ?????????? (Dominant) ??? PTC ????? (PTC=Phenylthiocarbamide) ??? PTC ?? ??????????? ???????? ??????????????????????????? ???????????????????????? ?????????? ??????? ????? ?????????

    15. ??.??.????? ? ???/311243 15

    16. ??.??.????? ? ???/311243 16 ???????????????????????????????????? ?????????????????????????????? ??????????????? ????????: ?????????????? ? ????????=???? / W WW, ???? Ww ? ???????=???? / w ww ?????????????????????????????????? ??????????=???? / C ??????????=???? / c

    17. ??.??.????? ? ???/311243 17 ?????????????? ?? 2533-2543: * 20-40% ?????????????????????????????????? ?????? 500,000 ???????????????????????????? ??????? 48,500 ??? ???????????????? ??????????????????? ??????????????????????????, ??????????????????

    18. ??.??.????? ? ???/311243 18 ?????/?????????????????????? * ?????????/?????????????? * ??????????????? * ???????????????????????? * ??????????????????????????? * ????????????????????????????????

    19. ??.??.????? ? ???/311243 19 ???????????????????? & ???????????? * galactosemia ? ??????????????????????????? * G-6-PD deficiency ? ??????????????? ???? primaquine, quinine, chloramphenicol, ??????????????? * Hemochromatosis (????????????????????) ? ????????????, ????????????????????????????? * Hemophilia ? ??? plasma ???????? antihaemophilic globulin *Agammaglobulinemia ???? gammaglobulin

    20. ??.??.????? ? ???/311243 20 * Hereditary polycystic disease (?????????????????????) ? kidney transplantation (??????????) Albinism (????????)--> ????????????? ? ????????????????????????????????/???? * Hereditary spherocytosis ??????????????? ? ?????????? ???????????????????? & ????????????

    21. ??.??.????? ? ???/311243 21 ??????????????????????? * Single gene disorders * Polygenic disorders * Multifactorial disorders * Chromosomal disorders

    22. ??.??.????? ? ???/311243 22 Genetic contributions to ill-health before the age of 25 **One million live-births ( Canadian) ==> genetic diseases = 53/1000 *Single gene disorders ? 1. Autosomal recessive = 1.4 % 2. Autosomal dominant = 1.7 % 3. X-linked = 0.5 % *Multifactorial disorders = 46.4 % *Chromosomal anomalies = 1.8 % *Undefined = 1.2 %

    23. ??.??.????? ? ???/311243 23 Mendelian Inheritance in Man (MIM) = ? = Encyclopedia of human gene and genetic diseases 10edition (1966) --> 110 edn (1994) 1987, MIM --> available online --> 1993 = CD-ROM (OMIM - Online Mendelian Inheritance in Man) *The latest entries relate to Autosomal dominant disorders ~ 67% Autosomal recessive ~ 26% X-linked disorders ~ 6%

    24. ??.??.????? ? ???/311243 24 ??????????????????????????????????????? ????????? Chromosomal disorders: *Down syndrome (1/700-1000) *Klinefelter syndrome (1/1000 Male) *Turner syndrome (1/2500-10000 Female) *Trisomy 13 (1/10000) *Trisomy 18 (1/6000)

    25. ??.??.????? ? ???/311243 25 ?????????????????????????????????????????

    26. ??.??.????? ? ???/311243 26 Patau syndrome (Trisomy 13) Turner syndrome (45,XO )

    27. ??.??.????? ? ???/311243 27 ?????????????????????????????????????????? Single gene disorders: *Cystic fibrosis (1/2000-4000 Whites) *Familial hypercholesterolemia (1/500) *Fragile X syndrome (1/1500 Male; 1/2500 Female) *Hemophilia A (1/10000 Male) *Hemochromatosis (1/5000) *Thalassemia (1/50-100 South Asian)

    28. ??.??.????? ? ???/311243 28 Two boys, both less than ten years old, who met during a gathering of progeriacs at Disneyland, California. Progeria is a heritable (genetic) disorder. It is characterized by accelerated aging and extremely reduced life expectancy. Source : Biology 1995

    29. ??.??.????? ? ???/311243 29 Thalassemia (???????????), Duchen muscular dystrophy (??????????????????)

    30. ??.??.????? ? ???/311243 30

    31. ??.??.????? ? ???/311243 31 ????????????????????????????????????????????????????????????: I.??????????????????????????????????? 1. ???????????????????????????????????????????????????????????? 2. ??????????????????????????????????????????? : ??????????? 1 : 1 ?????????????????????????????????????????????????????????????? ?? ???????????????????????????????????????????????????????????

    32. ??.??.????? ? ???/311243 32 3. ??????????????????????????????????? ??? ?????????????????????????????????????????????????????????? ??????????????????? ??????????????????????????????????????????????? 4. ???????????????????????????????? ??? 5. ?????????????????????????????????

    33. ??.??.????? ? ???/311243 33

    34. ??.??.????? ? ???/311243 34 ????????????????????????????????????????????????????????????: II.??????????????????????????????????? 1. ??????????????????????????????????? (??????????????????????????????????????????) ???????????????????????????????? ???????????????????????? ????????? 25% 2. ????????????????????????????? ??? 3. ????????????????????????? (rare trait) ????????????????????????????? ????????????????????????????? (consanguineous marriages)

    35. ??.??.????? ? ???/311243 35 4. ?????????????????????????????????????????????? ????????????? (ship generation) 5. ??????????????????????????????? ??????????????????????? (aa x aa ? aa) ???????????????????????? (??????? AA) ?????????????????????????????????? (AA x aa ?Aa)

    36. ??.??.????? ? ???/311243 36

    37. ??.??.????? ? ???/311243 37 ????????????????????????????????????????????????????????????: III. ???????????????????????????????????? X 1. ??????????????????????????? 2. ???????????????????????????? ??????????????????? (XHY x XHXh ==>XhY) ????????????????????????????????????????????? 3. ??????????????????? ??????????????????? ????????????????????? (XhY x XHXh ==> XhXh) ???????????????????????????????? ????????????????????????????????

    38. ??.??.????? ? ???/311243 38 4. ???????????????????????????????????????????????? ??????????????????? ???????????????????????????????????????????? (XhY x XHXH ==> XHXh , XHY) 5. ??????????????????????????????????????? (XhXh x XHY ==> XhY)

    39. ??.??.????? ? ???/311243 39

    40. ??.??.????? ? ???/311243 40 ???????????????????????????????????? X 1. ?????????????????????? 2. ???????????????????????????? ??????????????????? (XHY x XHXh ==>XhY) ????????????????????????????????????????????? 3. ??????????????????? ??????????????????? ????????????????????? (XhY x XHXh ==> XhXh) ???????????????????????????????? ???????????????????????????????? 4. ???????????????????????????????????????????????? ??????????????????? ???????????????????????????????????????????? (XhY x XHXH ==> XHXh , XHY) 5. ??????????????????????????????????????? (XhXh x XHY ==> XhY)

    41. ??.??.????? ? ???/311243 41 ????????????????????????????????????????????????????????????: IV. ???????????????????????????????????? X 1. ???????????????????????? 2 ??? ???????????????????????? 2. ???????????????????? ???????????????????????????????????? 3. ?????????????????????????? (?????????????????????) ?????????????????????????????????????????????? 50% 4. ?????????????????????????????????????? ?????????????????????? 5. ????????????????????????????

    42. ??.??.????? ? ???/311243 42

    43. ??.??.????? ? ???/311243 43

    44. ??.??.????? ? ???/311243 44 ????????????????????????????????????? ???????????????????????????????????? (gene interaction) ?????????? 2 ?????????????????? ??????????????????????????????????????????????????? ??????????????????????????????????????? (epistatic) ?????????????????? H (genotype HH ???? Hh) ???????????????? H-substrance ????????????????????????????????????? A ???????????? B (????????????????????????????????? A ???? B ????????) ????????????????????? h (genotype hh) ?????????????????? H-substrance ???????????????????????????????? A ???? ???????? B ???? ????????????????????????????????????????????? ?????????-????????????????? O ????????????? h ??????? Epistatic ????????????????? ABO

    45. ??.??.????? ? ???/311243 45

    46. ??.??.????? ? ???/311243 46 Genetic Heterogeneity: ??????????????????????????????????????????????????????????????? ??????????????????????????? Hereditary spherocytosis ??????????????????????????????????? ?????????????????????????????????????????????????????? ????????? (Deafness) ??? Muscular dystrophy ??? Ichthyosis ???????????????????????????????????????????????????

    47. ??.??.????? ? ???/311243 47

    48. ??.??.????? ? ???/311243 48 Variable of onset age ??????? ?????????????????????????????????????????????????????????????

    49. ??.??.????? ? ???/311243 49 Dominance ??? Recessive ??????????????????? 2 ?????? ??????????????????????????????????????????????????? ???????? ?????????????????????????????? (???? Aa) ???????????????????????????????????????? (??? AA) ???????????????? A ????????????????? a ?????????????? ????????????????????????????? AA ????????????????-??????????????? Aa ??????????????????? AB ??????? ?????? A ????????? B ??????????????????? ???????????????????????? ?????? A ??? B ????????????? Codominant ??????

    50. ??.??.????? ? ???/311243 50 Polygenic{multifactorial}disorders ???????????????????????????????? ???????????????????????????? ???????????????????????????????? (????????????????) ??? ?????????????????????????????????? ?????????????????????????????????: ??????????????????? --> ???????? ????????? ???????????????????? --> ?????????????????? ????????????????????????????????????????????????? ??????????????????????? ???????????? ????????????????????????? ????????????????????????????????????????

    51. ??.??.????? ? ???/311243 51 ???????????????????????? multifactorial disorders *Coronary artery disease *Hypertension *Psychiatric disease (schizophrenia) *Dementia *Pyrolic stenosis *Diabetes (insulin dependent) *Cancer *Mental retardation *Cleft lip/palate, Dislocation of hip

    52. ??.??.????? ? ???/311243 52

    53. ??.??.????? ? ???/311243 53

    54. ??.??.????? ? ???/311243 54

    55. ??.??.????? ? ???/311243 55 Eugenics ???????????????????????????????????????????? ????????? ??????????????????? ???????????????????????????????????????????????????????????????????????? ?????: ??????????????????????????????????????????????? ????????????????????? ??????????????????????????????????? heterozygote ????????? (??????????????????????????) ??????????????????????????????????????????????????????? ????????????????????????? heterozygote ??????? ????????????????????????????????? (homozygote) ????????????????????????? ??????????????????????????????????????????????? (= Eugenics ???????????) ??????????????????????? Eugenics ?????????????????????

    56. ??.??.????? ? ???/311243 56 ???????????????????????????????????

    57. ??.??.????? ? ???/311243 57 ????????????????????????????5 (5p-) cat cry syndrome

    58. ??.??.????? ? ???/311243 58 Chromosomal disorders deletion:???????????????????????????????????????????? ??????????????????????????????????????????????????? terminal deletion translocation:??????????????????????????????????????????????? reciprocal translocations= ?????????????? 2 ???????????????????? 2 ???? ?????????????????

    59. ??.??.????? ? ???/311243 59 Chromosomal disorders Duplication: ??????????????????????????????????????????

    60. ??.??.????? ? ???/311243 60 ???????????????????? ??????????????? ????????? (Aneuploid) ??????????????????????????????????????????? ?????? 45, 47 ???? 49 45,X ????? Monosomy X ?????????????????? 45,X ?????? 95-99% ?????? 47,XX, +21 ???? 47,XY, +21 ????? Trisomy 21 ??????? Down syndrome (????????? ?????????????? ???????????????? ?????????? ?????????????????? ???????? ???????? ?????????? ??????????????????? ????????????? ????????????????????????) ???????????????? 50 ?? ???????????????????????? 1 ?? 700 ??? 1 ?? 1,000 ????????????????????? 47,XX, +17 ???? 47,XY, +18 ????? Trisomy 18 ??????? Edward syndrome, 47,XX, +13 ???? 47,XY, +13 ????? Trisomy 13 ??????? Patau syndrome, 47,XXX ????? TripleX ??????????????????? TripleX syndrome ???? super female ???????????????????????????? ?????????

    61. ??.??.????? ? ???/311243 61 47,XXY ????? Klinefelter syndrome ?????????? ?????? ????????????????????? ???????????????????????? ???????? ????????????????????????????????? 47,XYY ????? Double Y syndrome ???? Supermale ?????????? ?????????????? ????????????????? ????????????????? ?????????? (Polyploidy) ???????????????????????????????????????????????????????? n (23) ??????????? Triploidy ?????????????? 3n ???? 69,XXX

    62. ??.??.????? ? ???/311243 62 ???????????? (Mosaicism) ????????????????????????????????????????????????????????????????????????????????????? ???? 46,XX/45,XO ???? 46,XY/47,XXY ???? 45,X/46,XX/47,XXX ??????? ?????????????????????????????? non-disjunction ?????????????? ?????????? (Chimerism) ???????????????????????????????????????????????????????????????????? 2 ??? ???? 46,XX/46,XY ????????????????????????????????????????????????? ???? 46, XX/46,XY del (5p)

    63. ??.??.????? ? ???/311243 63

    64. ??.??.????? ? ???/311243 64

    65. ??.??.????? ? ???/311243 65 ?????????????????????????? (pedigree)

    66. ??.??.????? ? ???/311243 66 ?????????????????????????? (pedigree)

    67. ??.??.????? ? ???/311243 67 ?????????????????????????? (pedigree)

    68. ??.??.????? ? ???/311243 68 ?????????????????????????? (pedigree)

    69. ??.??.????? ? ???/311243 69 ?????????????????????????? (pedigree)

    70. ??.??.????? ? ???/311243 70 ?????????????????????? (pedigree)

    71. ??.??.????? ? ???/311243 71 ?????????????????????? (pedigree)

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