Abstract
Haplotype frequencies of the β-globin gene cluster of Han Chinese at Beijing, Xi’an, and Kunming were estimated, and their mutual genetic relationships were examined and compared to those of Buryats, Khalkhs, Evenkis, Oroqens, Koreans, and Colombian Amerindians. A major 5′ subhaplotype (5′ to the δ-globin gene), a major 3′ subhaplotype (in and 3′ to the β-globin gene), and a major haplotype (combination of 5′ and 3′ subhaplotypes) are represented as + − − − −, − +, and + − − − − − +, respectively, and found in all three Han Chinese. A rare 5′ subhaplotype, − − − − −, which is one of the possible ancestral types, was found only in Han Chinese at Kunming at low frequency (0.013), and a rare 3′ subhaplotype, − −, was also observed in all three Han Chinese at low frequencies (0.009–0.014). The present haplotype frequency study suggested that the highest genetic affinity was found between Han Chinese at Beijing and those at Xi’an; the next highest was between Han Chinese at Beijing and Koreans, followed by that between Han Chinese at Beijing and Khalkhs, then that between Han Chinese at Xi’an and those at Kunming or Khalkhs, and finally that between Han Chinese at Beijing and those at Kunming. A genetic boundary between northern and southern Han Chinese was not evident in the present study.
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Antonarakis SE, Kazazian HH Jr, Orkin S (1985) DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 69:1–14
Brown JM, Thein SL, Mar KM, Weatherall DJ (1989) The spectrum of beta-thalassaemia in Burma. Prog Clin Biol Res 316B:161–169
Chan V, Chan TK, Cheng MY, Leung NK, Kan YW, Todd D (1986) Characteristics and distribution of β thalassemia haplotypes in South China. Hum Genet 73:23–26
Chen LZ, Wasteal S, Board RL, Kirk RL (1990) Evolution β-globin haplotypes in human populations. Mol Biol Evol 7:423–437
Cheng T-C, Orkin SH, Antonarakis S, Potter MJ, Sexton JP, Markham AF, Giardina OJV, Li A, Kazazian HH Jr (1984) β-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA 81:2821–2825
Ding Y-C, Wooding S, Harpending HC, Chi H-C, Li H-P, Fu Y-X, Pang J-F, Yao Y-G, Xiang Yu J-G, Moyzis R, Zhang Y (2000) Population structure and history in East Asia. Proc Natl Acad Sci USA 97:14003–14005
Felsenstein, J. (2002). Phylip, Version 3.5. Distributed by the author, Department of Genetics, University of Washington, Seattle
Hill AVS, Bowden DK, O’Shaughnessy DF, Weatherall DJ, Clegg JB (1988) β-Thalassemia in Melanesia: association with malaria and characterization of a common variant (IVS–1 nt 5G → C). Blood 72:9–14
Huisman THJ, Kutkar F, Nakatsuji T, Bruce-Tagoe A, Kilinc Y, Cauchi MN, Romero Garcia C (1985) The frequency of the γ chain variant AγT in different populations, and its use in evaluating γ gene expression in association with thalassemia. Hum Genet 71:127–133
Hundrieser J, Sanguansermsri T, Papp T, Laig M, Flatz G (1988) β-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations. Hum Genet 80:90–94
Lewontin RC (1964) The interaction of selection and linkage. 1. General considerations; Heterotic models. Evolution 49:49–67
Liu VWS, Woo YK, Lam VMS, Huang CH, Chau AS, Lam STS, Wong HW, Tam JWO (1988) Molecular studies of β-thalassemic DNA of Chinese patients. Birth Defects 23:87–92
Livshifts G, Nei M (1990) Relationships between intrapopulational and interpopulational genetic diversity in man. Ann Hum Biol 17:501–513
Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH (1990) Phylogeny of human β-globin haplotypes and its implications for recent human evolution. Am J Phys Anthropol 81:113–130
Ma L, Xue Y, Liu Y, Wang Z, Cui X, Li P, Fu S (2005) Polymorphism study of seven SNPs at ADH genes in 15 Chinese populations. Hereditas 142:103–111
Maggio A, Acuto S, Gioco PL, Marzo RD, Giambona A, Sammarco P, Caronia F (1986) βA and βthal DNA haplotypes in Sicily. Hum Genet 72:229–230
Matsumoto H (1988) Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins. Hum Genet 80:207–218
Nei M (1987) Molecular Evolutionary Genetics. Columbia University Press, New York
Old JM, Petrou M, Modell B, Weatherall DJ (1984) Feasibility of antenatal diagnosis of β-thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations. Br J Haematol 57:255–263
Orkin S, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PVJ (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in the human β-globin gene cluster. Nature 296:627–631
Ott J (2003) User’s guide to the EH program. Rockfeller University, New York
Shimizu K, Hashimoto T, Harihara S, Tajima K, Sonoda S, Zaninovic V (2001) β-Globin gene haplotype characteristics of Colombian Amerinds in South America. Hum Hered 51:54–63
Shimizu K, Marubayashi A, Tokimasa K, Harihara S, Omoto K, Imanishi T, Hao L, Jin F (2004) Characteristic β-globin gene cluster haplotypes of Evenkis and Oroqens in north China. Hum Biol 76:765–778
Shimizu K, Tokimasa K, Takeuchi Y, Batsuuri J, Nyamkhishig S, Dashnyam B, Dashnyam S, Gerelsaikhan T, Tanabe Y, Omoto K, Imanishi T, Harihara S, Hao L, Jin F (2006) Frequencies of the β-globin gene cluster haplotypes of Khalkhs and Buryats of Mongolia. Hum Biol 78:749–756
Su B, Xiao J, Underhill P, Deka R, Zhang W, Akey J, Huang W, Shen D, Lu D, Luo J, Chu J, Tan J, Shen P, Davis R, Cavalli-Sforza L, Chakraborty R, Xiong M, Du R, Oefner P, Chen Z, Jin L (1999) Y-chromosome evidence for a northward migration of modern humans into eastern Asia during the last ice age. Am J Hum Genet 65:1718–1724
Trent RJ, Ferguson V, Hertzberg MS, Rutherford J, Mickleson KNP (1990) β-Globin gene haplotypes in Polynesians are predominantly Southern Chinese type. Hum Hered 40:285–289
Villalobos-Arambula AR, Bustos R, Casas-Castaneda M, Gutierrez E, Perea FJ, Thein SL, Ibara B (1997) β-Thalassemia and βA globin gene haplotypes in Mexican mestizos. Hum Genet 99:498–500
Wainscoat JS, Hill AVS, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, Clegg JB (1986) Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature 319:491–493
Wen B, Li H, Song X, Zhang F, He Y, Li F, Gao Y, Mao X, Zhang L, Qian J, Tan J, Jin J, Huang W, Deka R, Su B, Chakraborty R, Jin L (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431:302–305
Yao Y-G, Nie L, Harpending H, Fu Y-X, Yuan Z-G, Zhang Y-P (2002) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118:63–76
Yongvanit P, Sriboonlue P, Mularlee N, Karnthong T, Areejitranusorn P, Hundrieser J, Limberg R, Schultze B, Laig M, Flatz SD, Flatz G (1989) DNA haplotypes and frameworks linked to the β-globin locus in an Austro-Asiatic population with a high prevalence of hemoglobin E. Hum Genet 83:171–174
Zhao TM, Lee TD (1989) Gm and Km allotypes in 74 Chinese populations: a hypothesis of the origin of the Chinese nation. Hum Genet 83:101–110
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Shimizu, K., Nagaoka, E., Okada, Y. et al. Characteristics of the β-Globin Gene Cluster Haplotypes of Three Han Chinese Populations at Beijing, Xi’an, and Kunming as Compared with Those of Other Asian Populations. Biochem Genet 46, 566–582 (2008). https://doi.org/10.1007/s10528-008-9171-9
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DOI: https://doi.org/10.1007/s10528-008-9171-9