Differentiation between African populations is evidenced by the diversity of alleles and haplotypes of HLA class I loci

Tissue Antigens

Volumn 63, Issue 4, 2004, Pages 293-325

  Cao, K ^a,b   Moormann, A M ^c   Lyke, K E ^d   Masaberg, C ^a,b   Sumba, O P ^e   Doumbo, O K ^f   Koech, D ^g   Lancaster, A ^h   Nelson, M ^h   Meyer, D ^h   Single, R ^h,i   Hartzman, R J ^b   Plowe, C V ^d   Kazura, J ^c   Mann, D L ^j   Sztein, M B ^d   Thomson, G ^h   Fernandez Vina M A ^a,b  

^a GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MARYLAND   (United States)

^e KERMI   (Kenya)

^f UNIVERSITY OF BAMAKO   (Mali)

^g KENYA MEDICAL RESEARCH INSTITUTE   (Kenya)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^j UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Genetic distance; Haplotype frequency; HLA class I genes; Linkage disequilibrium; Sequence specific oligonucleotide probe

Indexed keywords

HLA A ANTIGEN; HLA B ANTIGEN; HLA C ANTIGEN;

ARTICLE; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC DISTANCE; HAPLOTYPE; HLA TYPING; HUMAN; KENYA; MALI; NORMAL HUMAN; PRIORITY JOURNAL; UGANDA; ZAMBIA;

AFRICA SOUTH OF THE SAHARA; ALLELES; DNA PROBES, HLA; GENE FREQUENCY; GENES, MHC CLASS I; GENETICS, POPULATION; HAPLOTYPES; HISTOCOMPATIBILITY TESTING; HUMANS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

MALIA;

EID: 12144291194     PISSN: 00012815     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0001-2815.2004.00192.x     Document Type: Article

References (123)

1. Tishkoff SA, Williams SM. Genetic analysis of African populations: human evolution and complex disease. Nat Rev Genet 2002: 3: 611-21.
2. Lahr MM, Foley RA. Towards a theory of modern human origins: geography, demography and diversity on recent human evolution. Yb Phys Anthropol 1998: 41: 137-76.
3. Relethford JH. Genetics and the search for modern human origins. New York John Wiley and Sons, 2001.
4. Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC. Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 1995: 57: 133-49.
5. Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC. mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. Am J Hum Genet 2000: 66: 1362-83.
6. Jorde LB, Watkins WS, Bamshad MJ, Dixon ME, Ricker CE, Seielstad MT et al. The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. Am J Hum Genet 2000: 66: 979-88.
7. Watson E, Bauer K, Aman R, Weiss G, von Haeseler A, Paabo S. mtDNA sequence diversity in Africa. Am J Hum Genet 1997: 61: 980-3.
8. Watson E, Forster P, Richards M, Bandelt HJ. Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 1997: 61: 691-704.
9. Ingman M, Kaessmann H, Paabo S, Gyllensten U. Mitochondrial genome variation and the origin of modern humans. Nature 2000: 408: 708-13.
10. Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA et al. Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am J Hum Genet 1995: 57: 523-38.
11. Davis MM, Bjorkman PJ. A model for T cell receptor and MHC/peptide interaction. Adv Exp Med Biol 1989: 254: 13-6.
12. Marrack P, Kappler J. The antigen specific, major histocompatibility complex restricted receptor on T cells. Adv Immunol 1986: 38: 1-30.
13. Marrack P, Bender J, Jordan M, Rees W, Robertson J, Schaefer BC et al. Major histocompatibility complex proteins and TCRs: do they really go together like a horse and carriage? J Immunol 2001: 167: 617-21.
14. Marrack P, Kappler J. The T cell repertoire for antigen and MHC. Immunol Today 1988: 9: 308-15.
15. Saper MA, Bjorkman PJ, Wiley DC. Refined structure of the human histocompatibility antigen HLA A2 at 2.6A resolution. J Mol Biol 1991: 219: 277-319.
16. Brown JH, Jardetzky TS, Gorga JC, Stern LJ, Urban RG, Strominger JL et al. Three dimensional structure of the human class II histocompatibility antigen HLA DR1. Nature 1993: 364: 33-9.
17. McFarland BJ, Beeson C. Binding interactions between peptides and proteins of the class II major histocompatibility complex. Med Res Rev 2002: 22: 168-203.
18. Lawlor DA, Zemmour J, Ennis PD, Parham P. Evolution of class I MHC genes and proteins: from natural selection to thymic selection. Annu Rev Immunol 1990: 8: 23-63.
19. Hughes AL, Ota T, Nei M. Positive Darwinian selection promotes charge profile diversity in the antigen binding cleft of class I major histocompatibility complex molecules. Mol Biol Evol 1990: 7: 515-24.
20. Gustafsson K, Wiman K, Emmoth E, Larhammar D, Bohme J, Hyldig Nielsen JJ et al. Mutations and selection in the generation of class II histocompatibility antigen polymorphism. EMBO J 1984: 1655-61.
21. Hughes AL, Nei M. Maintenance of MHC polymorphism. Nature 1992: 355: 402-3.
22. Hughes AL, Nei M. Nucleotide substitution at major histocompatibility complex class II loci: evidence for overdominant selection. Proc Natl Acad Sci USA 1989: 86: 958-62.
23. Opelz G, Wujciak T, Dohler B, Scherer S, Mytilineos J. HLA compatibility and organ transplant survival. Collaborative Transplant Study. Rev Immunogenet 1999: 1: 334-42.
24. Erlich HA, Opelz G, Hansen J. HLA DNA typing and transplantation. Immunity 2001: 14: 347-56.
25. Hansen JA, Yamamoto K, Petersdorf E, Sasazuki T. The role of HLA matching in hematopoietic cell transplantation. Rev Immunogenet 1999: 1: 359.
26. Petersdorf EW, Anasetti C, Martin PJ, Hansen JA. Tissue typing in support of unrelated hematopoietic cell transplantation. Tissue Antigens 2003: 61: 1-11.
27. Muller JY, Halle L, Jaeger G. HLA-A and B antigens in AKA Pygmies. Tissue Antigens 1981: 17: 372-5.
28. Modiano D, Luoni G, Petrarca V, Sodiomon Sirima B, De Luca M, Simpore J et al. HLA class I in three West African ethnic groups: genetic distances from sub-Saharan and Caucasoid populations. Tissue Antigens 2001: 57: 128-37.
29. Renquin J, Sanchez-Masas A, Halle L, Rivallano S, Jaeger G, Mbayo K et al. HLA class II polymorphism in Aka Pygmies and Bantu Congolese and a reassessment of HLA-DRB1 African diversity. Tissue Antigens 2001: 58: 211-22.
30. Novitsky V, Flores-Villanueva PO, Chigwedere P, Gaolekwe S, Bussman H, Sebetso G et al. Identification of most frequent HLA class I antigen specificities in Botswana: relevance for HIV vaccine design. Hum Immunol 2001: 62: 146-56.
31. Tang J, Naik E, Costello C, Karita E, Rivers C, Allen S et al. Characteristics of HLA class I and class II polymorphisms in Rwandan women. Exp Clin Immunogenet 2000: 17: 185-98.
32. Krausa P, McAdam S, Bunce M, Whitworth J, Biryahwaho B, French N et al. HLA-A-B-C-DRB1, DRB3, DRB4, DRB5 and DQB1 polymorphism detected by PCR-SSP in a semi-urban HIV-positive Ugandan population. Exp Clin Immunogenet 1999: 16: 17-25.
33. de Pablo R, Garcia-Pacheco JM, Vilches C, Vilches C, Moreno ME, Sanz L et al. HLA class I and class II allele distribution in the Bubi population from the island of Bioko (Equatorial Guinea). Tissue Antigens 1997: 50: 593-601.
34. Hors J, Chenawi FE, Djoulah S, Hafez M, Abbas F, El Borai M-H et al. HLA in North African populations: 12th International Histocompatibility Workshop NAFR report. In: Charron D, ed. HLA -Genetic Diversity of HLA Functional and Medical Implication. Anthropology: Contribution of HLA, Vol. 1. EDK: Medical and Scientific International Publisher, 1997: 328-34.
35. Hammond MG, du Toit ED, Sanchez-Mazas A, Andrien M, Coluzzi M, De Pablo MR et al. HLA in sub-Saharan Africa: 12th International Histocompatibility Workshop SSAF report. In: Charron D, ed. HLA - Genetic Diversity of HLA Functional and Medical Implication. Anthropology: Contribution of HLA, Vol. 1. EDK: Medical and Scientific International Publisher, 1997: 345-53.
36. Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T. Reference tables. In: K Tsuji, M Aizawa, T Sasazuki, eds. HLA 1991 - Proceedings of the Eleventh International Histocompatibility Workshop and Conference, Vol. 1. Oxford University press, 1991: 67-1072.
37. Arnaiz-Villena A, Gomez-Casado E, Martinez-Laso J. Population genetic relationships between Mediterranean populations determined by HLA allele distribution and a historic perspective. Tissue Antigens 2002: 60: 111-21.
38. Oumhani K, Canossi A, Piancatelli D, Di Rocco M, Del Beato T, Liberatore G et al. Sequence-based analysis of the HLA-DRB1 polymorphism in Metalsa Berber and Chaouya Arabic-speaking groups from Morocco. Hum Immunol 2002: 63: 129-38. (Erratum In: Hum Immunol 2002: 63: 626).
39. Pimtanothai N, Hurley CK, Leke R, Klitz W, Johnson AH. HLA-DR and -DQ polymorphism in Cameroon. Tissue Antigens 2001: 58: 1-8.
40. Arnaiz-Villena A, Martinez-Laso J, Alonso-Garcia J. The correlation between languages and genes: the Usko-Mediterranean peoples. Hum Immunol 2001: 62: 1051-61.
41. Gomez-Casado E, del Moral P, Martinez-Laso J, Garcia-Gomez A, Allende L, Silvera-Redondo C et al. HLA genes in Arabic-speaking Moroccans: close relatedness to Berbers and Iberians. Tissue Antigens 2000: 55: 239-49.
42. Sanchez-Mazas A. African diversity from the HLA point of view: influence of genetic drift, geography, linguistics, and natural selection. Hum Immunol 2001: 62: 937-48.
43. Migot-Nabias F, Fajardy I, Danze PM, Everaere S, Mayombo J, Minh TN et al. HLA class II polymorphism in a Gabonese Banzabi population. Tissue Antigens 1999: 53: 580-5.
44. Fort M, de Stefano GF, Cambon-Thomsen A, Giraldo-Alvarez P, Dugoujon JM, Ohayon E et al. HLA class II allele and haplotype frequencies in Ethiopian Amhara and Oromo populations. Tissue Antigens 1998: 51: 327-36.
45. Izaabel H, Garchon HJ, Caillat-Zucman S, Beaurain G, Akhayat O, Bach JF et al. HLA class II DNA polymorphism in a Moroccan population from the Souss, Agadir area. Tissue Antigens 1998: 51: 106-10.
46. Schnittger L, May J, Loeliger CC, Gallin MY, Erttmann KD, Bienzle U et al. HLA DRB1-DQA1-DQB1 haplotype diversity in two African populations. Tissue Antigens 1997: 50: 546-51.
47. Ellis JM, Mack SJ, Leke RF, Quakyi I, Johnson AH, Hurley CK. Diversity is demonstrated in class I HLA-A and HLA-B alleles in Cameroon, Africa: description of HLA-A*03012, *2612, *3006 and HLA-B*1403, *4016, *4703. Tissue Antigens 2000: 56: 291-302.
48. Luo M, Embree J, Ramdahin S, Ndinya-Achola J, Njenga S, Bwayo JB et al. HLA-A and HLA-B in Kenya, Africa: allele frequencies and identification of HLA-B*1567 and HLA-B*4426. Tissue Antigens 2002: 59: 370-80.
49. Sanchez-Mazas A, Steiner QG, Grundschober C, Tiercy JM. The molecular determination of HLA-Cw alleles in the Mandenka (West Africa) reveals a close genetic relationship between Africans and Europeans. Tissue Antigens 2000: 56: 303-12.
50. Ellis JM, Hoyer RJ, Costello CN, Mshana RN, Quakyi IA, Mshana MN et al. HLA-B allele frequencies in Cote d'Ivoire defined by direct DNA sequencing: identification of HLA-B*1405, B*4410, and B*5302. Tissue Antigens 2001: 57: 339-43.
51. Middleton D, Williams F, Meenagh A, Daar AS, Gorodezky C, Hammond M et al. Analysis of the distribution of HLA-A alleles in populations from five continents. Hum Immunol 2000: 61: 1048-52.
52. Williams F, Meenagh A, Darke C, Acosta A, Daar AS, Gorodezky C et al. Analysis of the distribution of HLA-B alleles in populations from five continents. Hum Immunol 2001: 62: 645-50.
53. Bugawan TL, Klitz W, Blair A, Erlich HA. High-resolution HLA class I typing in the CEPH families: analysis of linkage disequilibrium among HLA loci. Tissue Antigens 2000: 56: 392-404.
54. Lazaro AM, Moraes ME, Marcos CY, Moraes JR, Fernandez-Vina MA, Stastny P. Evolution of HLA-class I compared to HLA-class II polymorphism in Terena, a South-American Indian tribe. Hum Immunol 1999: 60: 1138-49.
55. Fernandez-Vina MA, Lazaro AM, Marcos CY, Nulf C, Raimondi E, Haas EJ et al. Dissimilar evolution of B-locus versus A-locus and class II loci of the HLA region in South American Indian tribes. Tissue Antigens 1997: 50: 233-50.
56. Little AM, Scott I, Pesoa S, Marsh SG, Arguello R, Cox ST et al. HLA class I diversity in Kolla Amerindians. Hum Immunol 2001: 62: 170-9.
57. Hollenbach JA, Thomson G, Cao K, Ferdandez-Vina M, Erlich HA, Bugawan TL et al. HLA diversity, differentiation, and haplotype evolution in Mesoamerican natives. Hum Immunol 2001: 62: 378-90.
58. Saito S, Ota S, Yamada E, Inoko H, Ota M. Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population. Tissue Antigens 2000: 56: 522-9.
59. Tokunaga K, Ishikawa Y, Ogawa A, Wang H, Mitsunaga S, Moriyama S et al. Sequence-based association analysis of HLA class I and II alleles in Japanese supports conservation of common haplotypes. Immunogenetics 1997: 46: 199-205.
60. Bannai M, Ohashi J, Harihara S, Takahashi Y, Juji T, Omoto K et al. Analysis of HLA genes and haplotypes in Ainu (from Hokkaido, northern Japan) supports the premise that they descent from Upper Paleolithic populations of East Asia. Tissue Antigens 2000: 55: 128-39.
61. Bugawan TL, Mack SJ, Stoneking M, Saha M, Beck HP, Erlich HA. HLA class I allele distributions in six Pacific/Asian populations: evidence of selection at the HLA-A locus. Tissue Antigens 1999: 53: 311-9.
62. Main P, Attenborough R, Chelvanayagam G, Bhatia K, Gao X. The peopling of New Guinea: evidence from class I human leukocyte antigen. Hum Biol 2001: 73: 365-83. (Erratum In: Hum Biol 2001: 73: 782).
63. Cao K, Hollenbach J, Shi X, Shi W, Chopek M, Fernandez-Vina MA. Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations. Hum Immunol 2001: 62: 109-30.
64. Tsai Y, Thomson G. Selection intensity differences in seven HLA loci in many populations. In: Hansen JA, Dupont B, eds. HLA 2002 - Immunobiology of the Human MHC. IHWG Press, 2004. (in press).
65. Cao K, Chopek M, Fernandez-Vina MA. High and intermediate resolution DNA typing systems for class I HLA-A, B, C genes by hybridization with sequence-specific oligonucleotide probes (SSOP). Rev Immunogenet 1999: 1: 177-208.
66. Lawlor DA, Ward FE, Ennis PD, Jackson AP, Parham P. HLA-A and B polymorphisms predate the divergence of humans and chimpanzees. Nature 1988: 335: 268-71.
67. Parham P, Lawlor DA, Lomen CE, Ennis PD. Diversity and diversification of HLA-A, B, alleles. J Immunol 1989: 142: 3937-50.
68. Parham P, Adams EJ, Arnett KL. The origins of HLA-A, B, C polymorphism. Immunol Rev 1995: 143: 141-80.
69. Lancaster A, Nelson MP, Single RM, Meyer D, Thomson G. Software framework for the biostatistics core. In: Hansen JA, Dupont B, eds. HLA 2002 - Immunobiology of the Human MHC. IHWG Press, 2004. (in press).
70. Single R, Meyer D, Thomson G. Statistical Methods for analysis of population genetic data. In: Hansen JA, Dupont B, eds. HLA 2002 - Immunobiology of the Human MHC. IHWG Press, 2004. (in press).
71. Guo SW, Thompson EA. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 1992: 48: 361-72.
72. Schneider S, Kueffer JM, Roesli D, Excoffier L. Arlequin: A software package for population genetics, Version 2.0, Geneva: Genetics and Biometry Laboratory, Department of Anthorpology, University of Geneva 1999.
73. Watterson GA. The homozygosity test of neutrality. Genetics 1978: 88: 405-17.
74. Ewens WJ. The sampling theory of selectively neutral alleles. Theor Popul Biol 1972: 3: 87-112.
75. Slatkin M. An exact test for neutrality based on the Ewens sampling distribution. Genet Res 1994: 64: 71-4.
76. Liau SW, Mickey MR, Romano P, Lee TD. Study of HLA system in the Haitian Population. Tissue Antigens 1984: 23: 308-13.
77. Cavalli-Sforza LL, Bodmer WF. The Genetics of Human Populations. San Francisco: W.H. Freeman, 1971.
78. Sanchez-Velasco P, Escribano-Dediego J, Paz-Miguel JE, Ocejo-Vinyals G, Leyua-Cobian F. HLA-DR, DQ nucleotide sequence polymorphisms in the Pasiegos (pasvalley, Northen Spain) and comparison of the allelic and haplotypic frequencies with those of other European populations. Tissue Antigens 1999: 53: 65-73.
79. Grimaldi MC, Cronan-Roy B, Amoros JP, Cambon-Thomsen A, Carcassi C, Orru S et al. West Mediterranean Islands (Corcica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history. Tissue Antigens 2001: 58: 281-92.
80. Martinez-Laso F, Dejuan D, Martinez-Quiles N, Gomez-Casado E, Cuadrado E, Arnaiz-Villena A. The contribution of the HLA-A, B, C and DR-DQ-DNA testing to the study of the origins of Spaniards and Basques. Tissue Antigens 1995: 45: 137-45.
81. Arnaiz-Villena A, Karin M, Bendikuze N, Gomez-Casado E, Moscosio J, Silvera C. HLA alleles and haplotypes in the Turkish population: relatedness to kurds, Armenians and other Mediterraneans. Tissue Antigens 2001: 57: 308-12.
82. Williams RC, Troup GM, Nelson JL, Kostyu DD, McAuley JE, Pettitt DJ et al. Report North American Indian anthropology section. In: Tsuji K, Aizawa M, Sasazuki T, eds. HLA 1991 - Proceedings of the of the 11th International Histocompatibility Workshop. New York: Oxford University Press, 1992: 683-5.
83. Petzel-Erler ML, Gorodezky C, Layrisse Z, Klintz W, Fainboim L, Vullo C et al. Anthropology component report for region Latin-America: Amerindian and admixed populations. In: Charron D, ed. Genetic Diversity of HLA: Functional and Medical Implications, Vol 1. Paris: EDK Press, 1997: 337-45.
84. Belich MP, Madrigal JA, Hildebrand WH, Zemmour J, Williams RC, Luz R et al. Unusual HLA-B alleles in two tribes of Brazilian Indians. Nature 1992: 357: 326-9.
85. Watkins DI, McAdam SN, Liu X, Strang CR, Milford EL, Levine CG et al. New recombinant HLA-B alleles in a tribe of South American Amerindians indicate rapid evolution of MHC class I loci. Nature 1992: 357: 329-33.
86. Cerna M, Falco M, Friedman H, Raimondi E, Maccagno A, Fernandez Vina MA et al. Differences in HLA class II alleles of isolated South American Indian populations from Brazil and Argentina. Hum Immunol 1993: 37: 213-20.
87. Fernandez Vina MA, Moraes JR, Moraes ME, Miller S, Stastny P. HLA class II haplotypes in Amerindians and in black North and South Americans. Tissue Antigens 1991: 38: 235-40.
88. Titus Trachtenberg EA, Rickards O, De Stefano GF, Erlich HA. Analysis of HLA class II haplotypes in the Cayapa Indians of Ecuador: a novel DRB1 allele reveals evidence for convergent evolution and balancing selection at position 86. Am J Hum Genet 1994: 55: 160-7.
89. Yunis JJ, Ossa H, Salazar M Delgardo MB, Deulofeut R, de la Hoz A et al. Major histocompatibility complex class II alleles and haplotypes and blood groups of four Amerindian tribes of northern Colombia. Hum Immunol 1994: 41: 248-58.
90. Vullo CM, Delfino L, Angelini G, Ferrara GB. HLA polymorphism in a Mataco South American Indian tribe: serology of class I and II antigens. Molecular analysis of class II polymorphic variants. Hum Immunol 1992: 35: 209-14.
91. Parham P, Arnett KL, Adams EJ, Little AM, Tees K, Barber LD et al. Episodic evolution and turnover of HLA-B in the indigenous human populations of the Americas. Tissue Antigens 1997: 50: 219-32.
92. Sathiamurthy M, Hickman HD, Cavett JW, Zahoor A, Prilliman K, Metcalf S et al. Population of the HLA ligand database. Tissue Antigens 2003: 61: 12-9.
93. Clavijo OP, Delgado JC, Yu N, Fraser PA, Yunis EJ. HLA-Cw*1701 is associated with two sub-Saharan African-derived HLA haplotypes. HLA-B*4201, DRB1*03 and HLA-B*4202 without DRB1*03. Tissue Antigens 1999: 54: 303-6.
94. Tian W, Boggs DA, Ding WZ, Chen DF, Fraser PA. MICA genetic polymorphism and linkage disequilibrium with HLA-B in 29 African-American families. Immunogenetics 2001: 53: 724-8.
95. Barber LD, Percival L, Arnett KL, Gumperz JE, Chen L, Parham P. Polymorphism in the alpha 1 helix of the HLA-B heavy chain can have an overriding influence on peptide-binding specificity. J Immunol 1997: 158: 1660-9.
96. Jorde LB, Bamshad M, Rogers AR. Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 1998: 20: 126-36.
97. Sherry ST, Rogers AR, Harpending H, Soodyall H, Jenkins T, Stoneking M. Mismatch distributions of mtDNA reveal recent human population expansions. Hum Biol 1994: 66: 761-75.
98. Kimmel M, Chakraborty R, King JP, Bamshad M, Watkins WS, Jorde LB. Signatures of population expansion in microsatellite repeat data. Genetics 1998: 148: 1921-30.
99. Reich DE, Goldstein DB. Genetic evidence for a Paleolithic human population expansion in Africa. Proc Natl Acad Sci USA 1998: 95: 8119-23. (Erratum In: Proc Natl Acad Sci USA 1998: 95: 11026).
100. Relethford JH, Jorde LB. Genetic evidence for larger African population size during recent human evolution. Am J Phys Anthropol 1999: 108: 251-60.
101. Liu C, Carrington M, Kaslow RA, Gao X, Rinaldo CR, Jacobson LP et al. Association of polymorphisms in human leukocyte antigen class I and transporter associated with antigen processing genes with resistance to human immunodeficiency virus type 1 infection. J Infect Dis 2003: 187: 1404-10.
102. Gao X, Nelson GW, Karacki P, Martin MP, Phair J, Kaslow R et al. Effect of a single amino acid change in MHC class I molecules on the rate of progression to AIDS. N Engl J Med 2001: 344: 1668-75.
103. Hendel H, Caillat-Zucman S, Lebuanec H, Carrington M, O'Brien S, Andrieu JM et al. New class I and II HLA alleles strongly associated with opposite patterns of progression to AIDS. J Immunol 1999: 162: 6942-6.
104. Carrington M, Nelson GW, Martin MP, Kissner T, Vlahov D, Goedert JJ et al. HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 1999: 283: 1748-52.
105. Gillespie GM, Kaul R, Dong T, Yang HB, Rostron T, Bwayo JJ et al. Cross-reactive cytotoxic T lymphocytes against a HIV-1 p24 epitope in slow progressors with B*57. AIDS 2002: 16: 961-72.
106. Costello C, Tang J, Rivers C, Karita E, Meizen-Derr J, Allen S et al. HLA-B*5703 independently associated with slower HIV-1 disease progression in Rwandan women. AIDS 1999: 13: 1990-1.
107. Kaslow RA, Carrington M, Apple R, Park L, Munoz A, Saah AJ et al. Influence of combinations of human major histocompatibility complex genes on the course of HIV-1 infection. Nat Med 1996: 2: 405-11.
108. Begovich AB, McClure GR, Suraj VC, Helmuth RC, Fildes N, Bugawan TL et al. Polymorphism, recombination, and linkage disequilibrium within the HLA class II region. J Immunol 1992: 148: 249-58.
109. Awdeh ZL, Raum D, Yunis EJ, Alper CA. Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man. Proc Natl Acad Sci USA 1983: 80: 259-63.
110. Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Kidd JR, Cheung K et al. Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 1996: 271: 1380-7.
111. Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B et al. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet 1998: 62: 1389-402.
112. Tishkoff SA, Pakstis AJ, Stoneking M, Kidd JR, Destro-Bisol G, Sanjantila A et al. Short tandem-repeat polymorphism/alu haplotype variation at the PLAT locus: implications for modern human origins. Am J Hum Genet 2000: 67: 901-25.
113. Wilson JF, Weale ME, Smith AC, Gratrix F, Fletcher B, Thomas MG et al. Population genetic structure of variable drug response. Nat Genet 2001: 29: 265-9.
114. Calafell F, Shuster A, Speed WC, Kidd JR, Kidd KK. Short tandem repeat polymorphism evolution in humans. Eur J Hum Genet 1998: 6: 38-49.
115. Quintana-Murci L, Semino O, Bandelt HJ, Passarino G, McElreavey K, Santachiara-Benerecetti AS. Genetic evidence of an early exit of Homo sapiens from Africa through eastern Africa. Nat Genet 1999: 23: 437-41.
116. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH et al. Y chromosome sequence variation and the history of human populations. Nat Genet 2000: 26: 358-61.
117. Hammer MF, Karafet TM, Redd AJ, Jarjanazi H, Santachiara-Benerecetti S, Soodyall H et al. Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol 2001: 18: 1189-203.
118. Hammer MF, Karafet T, Rasanayagam A, Wood ET, Altheide TK, Jenkins T et al. Out of Africa and back again: nested cladistic analysis of human Y chromosome variation. Mol Biol Evol 1998: 15: 427-41.
119. Semino O, Santachiara-Benerecetti AS, Falaschi F, Cavalli-Sforza LL, Underhill PA. Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 2002: 70: 265-8.
120. Middleton D, Williams F, Hamill MA, Meenagh A. Frequency of HLA-B alleles in a Caucasoid population determined by a two-stage PCR-SSOP typing strategy. Hum Immunol 2000: 61: 1285-97.
121. Williams F, Meenagh A, Maxwell AP, Middleton D. Allele resolution of HLA-A using oligonucleotide probes in a two-stage typing strategy. Tissue Antigens 1999: 54: 59-68.
122. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS. Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 1998: 62: 420-34.
123. Soodyall H, Vigilant L, Hill AV, Stoneking M, Jenkins T. mtDNA control-region sequence variation suggests multiple independent origins of an 'Asian-specific' 9-bp deletion in sub-Saharan Africans. Am J Hum Genet 1996: 58: 595-608.