1. GGAW - Oct, 2001 M-W LIN Searching Microsatellite Markers for Mapping a Disease Gene 林明薇 Ming-Wei Lin, PhD 陽明大學醫學系家庭醫學科 台北榮民總醫院教學研究部

2. GGAW - Oct, 2001 M-W LIN Genetic Markers Protein marker  blood group, HLA tissue types…etc.. DNA marker  RFLPs (restriction fragment length polymorphisms)  Minisatellites (VNTR - variable number tandem repeats)  Microsatellites (STR - short tandem repeats)  SNPs (single nucleotide polymorphisms)

3. GGAW - Oct, 2001 M-W LIN Microsatellite Markers Types:  di- (CA)n,  tri- (CAG)n,  tetra- (GATA)n nucleotide repeats. Evenly distributed through genome.

4. GGAW - Oct, 2001 M-W LIN Microsatellite Markers CACA CA Primer 1 Primer 2 CACA CA CACA CACA

5. GGAW - Oct, 2001 M-W LIN Genotyping Results Child 1 Child 2 Child 3 Father Mother Child 1 C hild 2 Child 3 Father Mother D13S121- dinucleotideD13S770 - trinucleotide

6. GGAW - Oct, 2001 M-W LIN Applications Linkage mapping and association study (linkage disequilibrium) Loss of heterozygosity Microsatellite instability Forensic application Paternity identification

7. GGAW - Oct, 2001 M-W LIN

8. GGAW - Oct, 2001 M-W LIN

9. GGAW - Oct, 2001 M-W LIN Linkage Mapping for Disease Genes Linkage analysis (Lod score method) Allele-sharing methods

10. GGAW - Oct, 2001 M-W LIN Linkage Analysis Family

11. GGAW - Oct, 2001 M-W LIN

12. GGAW - Oct, 2001 M-W LIN Linkage Linkage describes the phenomenon whereby allele at neighbouring loci are close to one another on the same chromosome, they will be transmitted together more frequently than chance.

13. GGAW - Oct, 2001 M-W LIN Recombinant Gametes Crossing over between two neighbouring loci will produce recombinant gametes.

14. GGAW - Oct, 2001 M-W LIN Recombination Fraction Recombination fraction (θ) = number of recombinant gametes ------------------------------------------ total gametes

15. GGAW - Oct, 2001 M-W LIN

16. GGAW - Oct, 2001 M-W LIN

17. GGAW - Oct, 2001 M-W LIN Recombination Fraction Recombination fraction is a measure of genetic distance. 1cM=1% chance of recombination between two loci.

18. GGAW - Oct, 2001 M-W LIN Statistical Significance of the Lod Score lod score > 3: evidence of linkage 2 < lod score < 3: suggestive evidence of linkage -2 < lod score < 2: uninformative of linkage lod score < -2: exclusion of linkage

19. GGAW - Oct, 2001 M-W LIN Loss of Heterozygosity Loss of one allele at a heterozygous locus in a tumour cell, resulting in a homozygous genotype.

20. GGAW - Oct, 2001 M-W LIN

21. GGAW - Oct, 2001 M-W LIN Microsatellite Instability Microsatellite instability is numerous or aberrant allele at a microsatellite locus. Many tumours show microsatellite instability.

22. GGAW - Oct, 2001 M-W LIN

23. GGAW - Oct, 2001 M-W LIN Microsatellite Marker Databases GDB: http:/www.gdb.org Marshfield: http://research.marshfieldclinic.org/genetics/ CHLC (Cooperative Human Linkage Center): http:/www.chlc.org Genethon: http://www.genethon.fr/genethon_en.ht ml

24. GGAW - Oct, 2001 M-W LIN GDB

25. GGAW - Oct, 2001 M-W LIN GDB

26. GGAW - Oct, 2001 M-W LIN GDB

27. GGAW - Oct, 2001 M-W LIN GDB

28. GGAW - Oct, 2001 M-W LIN GDB

29. GGAW - Oct, 2001 M-W LIN GDB

30. GGAW - Oct, 2001 M-W LIN GDB

31. GGAW - Oct, 2001 M-W LIN GDB

32. GGAW - Oct, 2001 M-W LIN GDB

33. GGAW - Oct, 2001 M-W LIN GDB

34. GGAW - Oct, 2001 M-W LIN GDB

35. GGAW - Oct, 2001 M-W LIN GDB

36. GGAW - Oct, 2001 M-W LIN GDB

37. GGAW - Oct, 2001 M-W LIN GDB

38. GGAW - Oct, 2001 M-W LIN GDB

39. GGAW - Oct, 2001 M-W LIN GDB

40. GGAW - Oct, 2001 M-W LIN GDB

41. GGAW - Oct, 2001 M-W LIN GDB

42. GGAW - Oct, 2001 M-W LIN GDB

43. GGAW - Oct, 2001 M-W LIN GDB

44. GGAW - Oct, 2001 M-W LIN GDB

45. GGAW - Oct, 2001 M-W LIN Marshfield

46. GGAW - Oct, 2001 M-W LIN Marshfield

47. GGAW - Oct, 2001 M-W LIN Marshfield

48. GGAW - Oct, 2001 M-W LIN Marshfield

49. GGAW - Oct, 2001 M-W LIN Marshfield

50. GGAW - Oct, 2001 M-W LIN Marshfield

51. GGAW - Oct, 2001 M-W LIN Marshfield

52. GGAW - Oct, 2001 M-W LIN Marshfield

53. GGAW - Oct, 2001 M-W LIN Marshfield

54. GGAW - Oct, 2001 M-W LIN CHLC

55. GGAW - Oct, 2001 M-W LIN CHLC

56. GGAW - Oct, 2001 M-W LIN CHLC

57. GGAW - Oct, 2001 M-W LIN CHLC

58. GGAW - Oct, 2001 M-W LIN CHLC

59. GGAW - Oct, 2001 M-W LIN CHLC

60. GGAW - Oct, 2001 M-W LIN Genethon

61. GGAW - Oct, 2001 M-W LIN Genethon

62. GGAW - Oct, 2001 M-W LIN Genethon

63. GGAW - Oct, 2001 M-W LIN Microsatellite Marker Databases CEPH (Centre d’Etude du Polymorphisme Humain): http://www.cephb.fr Utah: http://www.genetics.utah.edu/home.html

64. GGAW - Oct, 2001 M-W LIN CEPH

65. GGAW - Oct, 2001 M-W LIN CEPH

66. GGAW - Oct, 2001 M-W LIN CEPH

67. GGAW - Oct, 2001 M-W LIN Standardized Genotype Data CEPH 1331-01 CEPH 1331-02 CEPH 1347-02

68. GGAW - Oct, 2001 M-W LIN NHRI Databases GDB mirror site http://gdb.nhri.org.tw/

69. GGAW - Oct, 2001 M-W LIN Successful Examples Cystic fibrosis Huntington disease Early onset breast cancer (BRCA1, BRCA2) Alzheimer disease (chr14, chr1) Maturity-onset diabetes of the young (MODY) (chr12)...