Guardado-Estrada M, Queipo G, Meraz-Ríos M, Berumen-Campos J

Language: Spanish
References: 112
Page: 162-174
PDF size: 146.91 Kb.

ABSTRACT

At the beginning of the 21st begins what it is known as the genomic era with the complete sequentiation of the human genome. Obtaining sequences from individuals all around the world could precise define the human variation among individuals. The knowledge of this genome variation will help to identify those genes that confer risk or protection for complex disease, identify the interactions between this genes and environmental factors and even predict the treatment response for that disease. Population Genetics is a useful tool and has an important meaning studying the genomic variation. Mexican population arose principally from the admixture of two populations that were separated long time ago, the Spaniards and the Amerindians, afterwards with a less degree of contribution of Africans. With the knowledge of the genetic variation among the Mexican population and those factors that act over the allelic frequencies could establish whether exists a direct relationship among the polymorphism in our genome, our environment and those complex disease with a higher prevalence in our population looking towards an individualized medicine.

REFERENCES

1. Hartl DL. Principles of population genetics. 3rd ed. Sinauer Associates; 1997.

2. Consortium. TIHGM. A physical map of the human genome. Nature 2001; 409 (6822): 934-941.

3. Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 2001; 291 (5507): 1304-1351.

4. Abecasis G, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. Human Genome Variation 2006: Emerging views on structural variation and large-scale SNP analysis. Nature Genetics 2007; 39 (2): 153-155.

5. Jorde LB, Watkins WS, Bamshad MJ et al. The distribution of human genetic diversity: A comparison of mitochondrial, autosomal, and y-chromosome data. Am J Hum Genet 2000; 66: 979-988.

6. Jorde LB, Wooding SP. Genetic variation, classification and ‘race’. Nat Genet 2004.

7. Gorodezky C AC, Vazquez-Garcia MN, de la Rosa G, Infante E, Balladares S, Toribio R, Perez-Luque E, Muñoz L. The genetic structure of Mexican Mestizos of different locations: Tracking back their origins through MHC genes, blood group systems, and microsatellites. Human Immunology 2001; 62 (9): 979-991.

8. Rangel-Villalobos, Rivas, Torres-Rodriguez et al. Allele frequency distributions of six Amp-FLPS (D1S80, APO-B, VWA, TH01, CSF1PO and HPRTB) in a Mexican population. Forens Sci Int 1999; 105: 125-129.

9. Beltran A. The slave trade in Mexico. Hispanic Am Hist Rev 1944; 24: 412–431.

10. Lisker R, Ramirez E, Babinsky. V. Genetic structure of autochthonous populations of Meso-America: Mexico. Hum Biol 1996; 68 (3): 395-404.

11. Lisker R. Estructura genética de la población mexicana. Mexico City; 1981.

12. Gillespie J. Population genetics: A Concise Guide. 2nd ed. Press TJHU, 2004.

13. Cavalli-Sforza L et al. The history and geography of human genes: Princeton University Press; 1996.

14. Strachan T, Read AP. Human Molecular Genetics. 3rd ed. Garland; 2004.

15. Templeton AR. Population genetics and microevolutionary theory; 2006.

16. Templeton. Haplotype trees and modern human origins. Am J Phys Anthropol 2005; suppl 41: 33-59.

17. Rosenberg N, Nordborg M. Genealogical trees, coalescent theory and the analysis of genetic polymorphism. Nature Rev Gen 2002; 3: 380-390.

18. Weir BS. Statistical analysis of DNA sequences. J Natl Cancer Inst 1988; 80 (6): 395-406.

19. Kimura M, Ohta T. Protein polymorphism as a phase of molecular evolution. Nature 1971; 229 (5285): 467-469.

20. Sanger F, Nicklen S, Coulson AR. DNA Sequencing with Chain-Terminating Inhibitors. PNAS 1977; 74 (12): 5463-5467.

21. Kimura M. The rate of molecular evolution considered from the standpoint of population genetics. PNAS 1969; 63 (4): 1181-1188.

22. Tajima F. Statistical analysis of DNA polymorphism. Jap J Genet 1993; 68 (6): 567-95.

23. Innan H, Zhang K, Marjoram P, Tavare S, Rosenberg NA. Statistical tests of the coalescent model based on the haplotype frequency distribution and the number of segregating sites. Genetics 2005; 169 (3): 1763-1777.

24. Rosenberg NA, Hirsh AE. On the use of star-shaped genealogies in inference of coalescence times. Genetics 2003; 164 (4): 1677-1682.

25. Degnan JH, Rosenberg NA. Discordance of species trees with their most likely gene trees. PLoS Genetics 2006; 2 (5): e68.

26. Hey J, Machado CA. The study of structured populations - new hope for a difficult and divided science. Nature Rev Genetics 2003; 4 (7): 535-543.

27. Wright S. Evolution in mendelian populations. Genetics 1931; 16 (2): 97-159.

28. Theodorou K, Couvet D. Genetic load in subdivided populations: Interactions between the migration rate, the size and the number of subpopulations. Heredity 2005; 96 (1): 69-78.

29. Kong A, Gudbjartsson DF, Sainz J et al. A high-resolution recombination map of the human genome. Nat Genet 2002; 31 (3): 241-247.

30. Nachman MW, Bauer VL, Crowell SL, Aquadro CF. DNA variability and recombination rates at X-linked loci in humans. Genetics 1998; 150 (3): 1133-1141.

31. Dawson E, Abecasis GR, Bumpstead S et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 2002; 418 (6897): 544-548.

32. Anderson S, Bankier AT, Barrell BG et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290 (5806): 457-465.

33. Taanman J. The mitochondrial genome: Structure, transcription, translation and replication. Biochim Biophys Acta 1999; 1410 (2): 103-123.

34. Harpending H, Rogers A. Genetic perspectives on human origins and differentiation. In; 2000: 361-385.

35. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997; 278 (5338): 675-680.

36. Casanova M, Leroy P, Boucekkine C et al. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 1985; 230 (4732): 1403-1406.

37. Ingman MKM, Paabo S, Gyllensten U. Mitochondrial genome variation and the origin of modern humans. Nature 2000; 408 (7): 708-713.

38. Thomson R, Pritchard JK, Shen P, Oefner PJ, Feldman MW. Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data. Proc Natl Acad Sci USA 2000; 97 (13): 7360-7365.

39. Group TISMW. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001; 409 (6822): 928-933.

40. Hammer MF, Blackmer F, Garrigan D, Nachman MW, Wilder JA. Human population structure and its effects on sampling Y chromosome sequence variation. Genetics 2003; 164 (4): 1495-1509.

41. Whitfield. L, Sulston. J, Goodfellow. P. Sequence variation of the human Y chromosome. Nature 1995; 378 (6555): 379-380.

42. Brown W. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci USA 1980; 77 (6): 3605-3609.

43. Green LD DJ, Knight A. mtDNA affinities of the peoples of North-Central Mexico. Am J Hum Genet 2000; 66: 989–998.

44. Garrigan D HM. Reconstructing human origins in the genomic era. Nature Genetics 2006; 7: 669-680.

45. Wilkins J. Unraveling male and female histories from human genetic data. Curr Op Genet Dev 2006; 16: 611–617.

46. Cann RL SM, Wilson AC. Mitochondrial DNA and human evolution. 1987; 325 (6099): 31-36.

47. Templeton. Out of Africa? What do genes tell us? Curr Opin Genet Dev 1997 7 (6): 841-847.

48. Ingman M, Gyllensten U. Analysis of the complete human mtDNA genome: Methodology and inferences for human evolution. In; 2001: 454-461.

49. Maca-Meyer N, Gonzalez A, Larruga J, Flores C, Cabrera V. Major genomic mitochondrial lineages delineate early human expansions. BMC Genetics 2001; 2 (1): 13.

50. Bertrantpetit J. Genome, diversity, and origins: The Y chromosome as a storyteller. PNAS 2000; 97 (13): 6927–6929.

51. Aquadro CF, Greenberg BD. Human mitochondrial DNA variation and evolution: Analysis of nucleotide sequences from seven individuals. Genetics 1983; 103 (2): 287-312.

52. Cann R, Wilson A. Genetics 1983; 109: 699-711

53. Maca-Meyer N CV, Arnay M, Flores C, Fregel R, Gonzalez AM, Larruga JM. Mitochondrial DNA diversity in 17th-18th century remains from Tenerife (Canary Islands). Am J Phys Anthropol 2005; 127 (4): 418-426.

54. Horai SKR, Nakagawa-Hattori Y, Hayashi S, Sonoda S, Tajima K. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol 1993; 10 (1): 23-47.

55. Ward. RH, Frazier. BL, Dew-Jager. K, Paabo. S. Extensive mitochondrial diversity within a single Amerindian Tribe. Proc Natl Acad Sci USA 1991; 88 (19): 8720-8724.

56. Bonatto SL SF. Diversity and age of the four major mtDNA haplogroups, and their implications for the peopling of the New World. Am J Hum Genet 1997; 61 (6): 1413-1423.

57. Bonatto SL, Salzano FM. A single and early migration for the peopling of the Americas supported by mitochondrial DNA sequence data. Proc Natl Acad Sci USA 1997; 94 (5): 1866-1871.

58. Mulligan CJ, Hunley K, Cole S, Long JC. Population genetics, history, and health patterns in native Americans. In; 2004: 295-315.

59. Torroni A, Schurr TG, Yang CC et al. Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 1992; 130 (1): 153-162.

60. Schurr TG BS, Gan YY, Hodge JA, Merriwether DA, Lawrence DN, Knowler WC, Weiss KM, Wallace DC. Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am J Hum Genet 1990; 46 (3): 613-623.

61. Salzano. FM. Molecular variability in Amerindians: Widespread but uneven information. An Acad Bras Ciênc 2002; 74: 223-263.

62. Peñaloza-Espinosa. R, Arenas-Aranda D, Cerda-Flores R et al. Characterization of mtDNA haplogroups in 14 Mexican indigenous populations. Hum Biol 2007; 79 (3): 313-320.

63. Bonilla C GG, Parra EJ, Kline C, Shriver MD. Admixture analysis of a rural population of the state of Guerrero, Mexico. Am J Phys Anthropol 2005; 128 (4): 861-869.

64. Martinez-Marignac VL, Cameron E, Chan A, Perera A, Globus-Goldberg R, Wacher N, Kumate J, McKeigue P, O’donnell D, Shriver MD, Cruz M, Parra EJ. Admixture in Mexico City: Implications for admixture mapping of type 2 diabetes genetic risk factors. Hum Genet 2007; 120 (6): 807-819.

65. Torroni A, Huoponen K, Francalacci P et al. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144 (4): 1835-1850.

66. Underhill PA, Jin L, Lin AA et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 1997; 7 (10): 996-1005.

67. Underhill PA, Passarino G, Lin AA et al. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 2001; 65 (1): 43-62.

68. Hammer MF, Karafet TM, Redd AJ et al. Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol 2001; 18 (7): 1189-1203.

69. Karafet T, Xu L, Du R et al. Paternal population history of East Asia: Sources, patterns, and microevolutionary processes. Am J Hum Genet 2001 69 (3): 615-28.

70. Semino O, Passarino G, Oefner PJ et al. The Genetic legacy of paleolithic Homo sapiens in extant Europeans: A Y chromosome perspective. Science 2000; 290 (5494): 1155-1159.

71. Consortium TYC. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002; 12 (2): 339-348.

72. Bianchi NO, Catanesi CI, Bailliet G et al. Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. Am J Hum Genet 1998 63 (6): 1862-1871.

73. Lell JT, Sukernik RI, Starikovskaya YB et al. The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet 2002; 70 (1): 192-206.

74. Vallinoto AC et al. Heterogeneity of Y chromosome markers among Brazilian Amerindians. Am J Hum Biol 1999; 11 (4): 481-487.

75. Zegura SL, Karafet TM, Zhivotovsky LA, Hammer MF. High-Resolution SNPs and microsatellite haplotypes point to a single, recent entry of Native American Y chromosomes into the Americas. Mol Biol Evol 2004; 21 (1): 164-175.

76. Karafet T, Zegura SL, Vuturo-Brady J et al. Y chromosome markers and Trans-Bering Strait dispersals. Am J Phys Anthropol 1997 102 (3): 301-314.

77. Lell JT, Brown MD, Schurr TG et al. Y chromosome polymorphisms in native American and Siberian populations: Identification of native American Y chromosome haplotypes. Hum Genet 1997 100 (5-6): 536-543.

78. Vieira AR, Karras JC, Orioli IM, Castilla EE, Murray JC. Genetic origins in a South American clefting population. Clin Genet 2002; 62 (6): 458-463.

79. Martinez Marignac VL, Bertoni B, Parra EJ, No B. Characterization of admixture in an urban sample from Buenos Aires, Argentina, using uniparentally and biparentally inherited genetic markers. Hum Biol 2004 76 (4): 543-557.

80. Doolittle. W, Sapienza. C. Selfish genes, the phenotype paradigm and genome evolution. Nature 1980; 284. (5757): 601-603.

81. Orgel L, Crick F. Selfish DNA: The ultimate parasite. Nature 1980 284 (5757): 604-607.

82. Kimmel M, Chakraborty R, Stivers DN, Deka R. Dynamics of repeat polymorphisms under a forward-backward mutation model: Within- and between-population variability at microsatellite loci. Genetics 1996; 143 (1): 549-555.

83. Pluzhnikov A, Di Rienzo A, Hudson RR. Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics 2002; 161 (3): 1209-1218.

84. Li Y-C, Korol AB, Fahima T, Nevo E. Microsatellites within genes: Structure, function, and evolution. Mol Biol Evol 2004; 21 (6): 991-1007.

85. Li Y-C, Korol AB, Fahima T, Beiles A, Nevo E. Microsatellites: Genomic distribution, putative functions and mutational mechanisms: A review. In; 2002: 2453-2465.

86. Miozzo M, Sozzi G, Musso K et al. Microsatellite alterations in bronchial and sputum specimens of lung cancer patients. Cancer Res 1996; 56 (10): 2285-2288.

87. Young J, Leggett B, Gustafson C et al. Genomic instability occurs in colorectal carcinomas but not in adenomas. Hum Mutat 1993; 2 (5): 351-354.

88. Smouse PE, Chevillon C. Analytical aspects of population-specific DNA fingerprinting for individuals. J Hered 1998; 89 (2): 143-150.

89. Rangel-Villalobos H, Rivas F, Sandoval L et al. Genetic variation among four Mexican populations (Huichol, Purepecha, Tarahumara, and Mestizo) revealed by two VNTRs and four STRs. Hum Biol 2000; 72 (6): 983-1005.

90. Luna-Vazquez A, Vilchis-Dorantes G, Paez-Riberos LA, Muñoz-Valle F, Gonzalez-Martin A, Rangel-Villalobos H. Population data of nine STRs of Mexican-mestizos from Mexico City. Forensic Sci Internat 2003; 136 (1-3): 96-98.

91. Gutierrez A, Moguel T, Leon J, Cuellar N, Rangel V. Allele and haplotype distribution for 16 Y-STRs (AmpFlSTR® Y-filerT kit) in the state of Chihuahua at North Center of Mexico. Legal Medicine 2007; 9 (3): 154-157.

92. Luna-Vazquez. A, G. Vilchis-Dorantes, M.O. Aguilar-Ruiz et al. Population data for 15 loci (Identifilerr Kit) in a sample from the Valley of Mexico. Legal Medicine 2005.

93. Hernandez-Gutierrez S, Hernandez-Franco P, Martinez-Tripp S, Ramos-Kuri M, Rangel-Villalobos. H. STR data for 15 loci in a population sample from the central region of Mexico. Forensic Sci Internat 2005; 151 (1): 97-100.

94. Licea C, Rizzo J, Muñiz L, Paez R, Rangel V. Population data of nine STRs of Mexican-mestizos from Veracruz (Central South-Eastern, Mexico). Legal Medicine 2006; 8 (4): 251-252.

95. Torres R, Martinez C, Paez R et al. Forensic potential of the STR DXYS156 in Mexican populations: Inference of X-linked allele null. Legal Medicine 2006; 8 (1): 52-54.

96. The International HapMap Project. Nature 2003; 426 (6968): 789-796.

97. Sherry ST, Ward MH, Kholodov M et al. dbSNP: The NCBI database of genetic variation. Nucl Acids Res 2001; 29 (1): 308-311.

98. Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y. JSNP: A database of common gene variations in the Japanese population. Nucl Acids Res 2002; 30 (1): 158-q62.

99. Jimenez-Sanchez G. Developing a platform for genomic medicine in Mexico. Science 2003; 300 (5617): 295-296.

100. Matsuzaki H, Loi. H, Dong S et al. Parallel genotyping of over 10 000 SNPs using a one primer assay on a high density oligonucleotide array. Genome Res 2004; 14: 414-425.

101. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6 (2): 95-108.

102. Editorial. What is the Human Variome Project? Nat Genet; 39: 423.

103. Gibbs. R. Deeper into the genom. Nature 2005; 437: 1233-1234.

104. Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet 2006; 7 (10): 781-791.

105. Kato M, Sekine A, Ohnishi Y et al. Linkage disequilibrium of evolutionarily conserved regions in the human genome. In; 2006: 326.

106. Gil McVean CCAS, Raphaelle Chaix. Perspective on human genetic variation from the HapMap Project. PLOS GENETICS 2005; 1 (4): e54.

107. T.A LV. Why we should continue to study race... but do a better job: An essay on race, racism and health. Ethn Dis 1996; 6: 21-29.

108. Race EaGWG. The use of racial, ethnic, and ancestral categories in human genetics research. In; 2005: 519-532.

109. Wang DG, Fan J-B, Siao C-J et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998; 280 (5366): 1077-1082.

110. Carlson CS, Eberle M, Rieder M, Yi Q, Kruglyak L, Nickerson D. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74: 106-120.

111. Weir BS, Anderson A, Hepler A. Genetic relatedness analysis: Modern data and new challenges. Nature Rev Gen 2006; 7: 771-780.

112. Shriver M, Mei R, Parra E et al. Largescale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics 2005; 2 (2): 81–89.