广东东莞汉族mtDNA遗传多态性的研究
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摘要
目的：通过研究广东东莞汉族的线粒体DNA(mtDNA)突变位点，分析其单倍型类群，充实广东汉族线粒体DNA基因库。同时通过将东莞汉族线粒体DNA单倍型数据同其他地区的汉族以及少数民族的线粒体DNA数据比较，了解东莞汉族与其他地区汉族人群之间的关系，了解东莞汉族与其他民族之间的母系遗传关系，为有关广东汉族人群的起源与迁移的历史记载提供遗传学方面的依据。
方法：在知情同意原则下，采用EDTA抗凝收集广东东莞汉族三代之内无亲缘关系的107名健康个体，抽提其DNA，建立基因库。对所有个体的线粒体高变区进行测序，通过与线粒体DNA标准序列(即剑桥序列，CambridgeReference Sequence，CRS)进行比较，寻找突变位点，初步划分单倍型类群，再结合编码区的限制性片段多态性、部分序列突变位点等信息，确认样本的线粒体DNA进行单倍型分型。参考已经发表的mtDNA数据，计算东莞汉族与其他地区汉族和少数民族之间的遗传距离，并进行主成分分析。
结果：获得了东莞汉族线粒体DNA高变区序列信息和部分编码区的限制性片段多态性、部分序列数据。通过单倍型划分，发现在东莞汉族群体中存在多种(亚)单倍型类群，比较高频率的单倍型类群是D、M7、B和F1，分别为18.7％，18.7％，17.8％和14.0％，而单倍型类群A、C、G2、Z的频率很低，分别是2.8％，1.9％，1.9％和1.9％。
结论：通过各地区汉族人群之间，以及东莞汉族和其他少数民族的比较，发现广东东莞汉族具有典型的南方汉族人群特点，并能代表广东地区汉族人群的母系遗传结构。通过东莞汉族与少数民族限制性片段多态性单倍型数据的分析，发现广东汉族与百越后裔、苗、瑶族等族关系密切，符合广东汉族是百越后代，在其形成的过程中融合了苗、瑶等少数民族的历史记载。
Objective: To amplify the mtDNA gene pool of Guang-Dong Han Populations which is a ancient population in Guang-Dong Province, the research the mtDNAs of the Dong-Guan Han Population and analysis the mtDNA haplogroups have been done. Comparing the mtDNA gene pool with other region Han Populations and ethnic Populations to know the Guang-Dong Han Population origins, evolving, migration and the genetic characters.
Methods: Blood samples of 107 unrelated individuals from Dong-Guan Han Population were collected with appropriate informed consent. Genomic DNA was extracted by. Sequencing the HVSⅠ,Ⅱto find the mutation sites in the HVSⅠ,Ⅱby comparing with the CRS. Haplotyping the mtDNAs by the mutation sites and other data include the RFLP etc. The genetic distance and principal component analysis have been done with these mtDNA data.
Results: Blood samples of 107 unrelated individuals from Dong-Guan Han Population were collected with appropriate informed consent. The mtDNA mutation sites in HVSⅠ,Ⅱand coding region have been funded. There are some (sub-) haplogroups existing in the Dong-Guan Han Population. Haploroup D, M7, B and F1 are existed with high frequency. These haplogroups including A, C, G2 and Z have a relative low frequency. By comparing the other regional Han Populations, Dong-Guan Han's maternal genetic construction is similar with the Guang-Zhou Han and Yun-Nan Han Populations. At the same time Dong-Guan Han Population have a proximate genetic relationship between the Yao, Miao and Dai ethnic Groups.
Conclusion: The Guang-Dong Han Populations have a typical south origin mtDNA haplogroup profile by analysis the Han Populations. The maternal genetic structure of Guang-Dong Han Population can be representing by the Dong-Guan Han Population. The Guang-Dong Han population have originate from Bai-Yuei Tribe and gene admixture with other ethic populations, such as Miao populations, Yao populations..
方法：在知情同意原则下，采用EDTA抗凝收集广东东莞汉族三代之内无亲缘关系的107名健康个体，抽提其DNA，建立基因库。对所有个体的线粒体高变区进行测序，通过与线粒体DNA标准序列(即剑桥序列，CambridgeReference Sequence，CRS)进行比较，寻找突变位点，初步划分单倍型类群，再结合编码区的限制性片段多态性、部分序列突变位点等信息，确认样本的线粒体DNA进行单倍型分型。参考已经发表的mtDNA数据，计算东莞汉族与其他地区汉族和少数民族之间的遗传距离，并进行主成分分析。
结果：获得了东莞汉族线粒体DNA高变区序列信息和部分编码区的限制性片段多态性、部分序列数据。通过单倍型划分，发现在东莞汉族群体中存在多种(亚)单倍型类群，比较高频率的单倍型类群是D、M7、B和F1，分别为18.7％，18.7％，17.8％和14.0％，而单倍型类群A、C、G2、Z的频率很低，分别是2.8％，1.9％，1.9％和1.9％。
结论：通过各地区汉族人群之间，以及东莞汉族和其他少数民族的比较，发现广东东莞汉族具有典型的南方汉族人群特点，并能代表广东地区汉族人群的母系遗传结构。通过东莞汉族与少数民族限制性片段多态性单倍型数据的分析，发现广东汉族与百越后裔、苗、瑶族等族关系密切，符合广东汉族是百越后代，在其形成的过程中融合了苗、瑶等少数民族的历史记载。
Objective: To amplify the mtDNA gene pool of Guang-Dong Han Populations which is a ancient population in Guang-Dong Province, the research the mtDNAs of the Dong-Guan Han Population and analysis the mtDNA haplogroups have been done. Comparing the mtDNA gene pool with other region Han Populations and ethnic Populations to know the Guang-Dong Han Population origins, evolving, migration and the genetic characters.
Methods: Blood samples of 107 unrelated individuals from Dong-Guan Han Population were collected with appropriate informed consent. Genomic DNA was extracted by. Sequencing the HVSⅠ,Ⅱto find the mutation sites in the HVSⅠ,Ⅱby comparing with the CRS. Haplotyping the mtDNAs by the mutation sites and other data include the RFLP etc. The genetic distance and principal component analysis have been done with these mtDNA data.
Results: Blood samples of 107 unrelated individuals from Dong-Guan Han Population were collected with appropriate informed consent. The mtDNA mutation sites in HVSⅠ,Ⅱand coding region have been funded. There are some (sub-) haplogroups existing in the Dong-Guan Han Population. Haploroup D, M7, B and F1 are existed with high frequency. These haplogroups including A, C, G2 and Z have a relative low frequency. By comparing the other regional Han Populations, Dong-Guan Han's maternal genetic construction is similar with the Guang-Zhou Han and Yun-Nan Han Populations. At the same time Dong-Guan Han Population have a proximate genetic relationship between the Yao, Miao and Dai ethnic Groups.
Conclusion: The Guang-Dong Han Populations have a typical south origin mtDNA haplogroup profile by analysis the Han Populations. The maternal genetic structure of Guang-Dong Han Population can be representing by the Dong-Guan Han Population. The Guang-Dong Han population have originate from Bai-Yuei Tribe and gene admixture with other ethic populations, such as Miao populations, Yao populations..
引文
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[2] 杜若甫，肖春杰．从遗传学探讨中华民族的源与流．中国社会科学．1997，4：139-149
[3] 许丽萍，杜若甫．人类基因组多样性计划的新动态．中华医学遗传学杂志．1999，16(2)：108-110
[4] Jarvik GP, Brunzell JD, Austin MA, etal. Genetic predictors of FCHL in four large pedigrees, Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb Vasc Biol. 1994, 14: 1687-1694
[5] 肖春杰，郝露萍，张卫红，陶永琏，周曾娣，杜若甫．德昂族红细胞血型分布的研究．遗传学报，1995，17(5)：8—10．
[6] 肖春杰，郝露萍，张卫红，陶永琏，周曾娣，杜若甫．纳西族和普米族的红细胞血型分布．遗传学报，1995，22(4)：252-257．
[7] 郝露萍，肖春杰，张卫红，陶永琏，周曾娣，杜若甫．云南“本人”红细胞血型分布与契丹人血缘关系的讨论．人类学学报，1995，14(3)：247-254
[8] 贺林．解码生命一人类基因组计划和后基因组计划．北京：科学出版社，2000．
[9] Williams JG, Kubelik AR, Livak KJ, Rafalski JA, Tingey SV. DNA polymorphisms amplified by arbitrary primers are useful as genetic markers. Nucleic Acids Res, 1990, 18(22): 6531-6535.
[10] Zabeau M, Vos P. Selective restriction fi-agment amplification: a general method for DNA fingerprinting. European Patent Office, 1993, publication 0534858A1.
[11] Edwards AL, Civitello A. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet, 1991, 49 (4): 746-752.
[12] Brookes AJ. The essence of SNPs. Gene, 1999, 234: 177-186.
[13] 刘万清，贺林．SNP一为人类基因组描绘新的蓝图．遗传，1998，20(6)：38—40．
[14] Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet, 1999, 22 (3): 2312-2381
[15] Lander ES, Linton LM, Birren B; et al. Initial sequencing and analysis of the human genome. Nature, 2001, 409(6822): 860-921
[16] Jorde LB, Rogers Ar, Bamshad M, Watldns WS, Krakowaik P, Sung S, Kere J, Harpending HC. Microsatellite diversity and the demographic history of modern humans. Proc Natl Aced Sci USA, 1997, 94: 3100-3103.
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