HEREDITAS (Beijing) 2009 2, 31(2): 153 159 ISSN 0253-9772 www.chinagene.cn 研究报告 DOI: 10.3724/SP.J.1005.2009.00153 云南白族 傣族 彝族 X 染色体 STR 基因座的遗传多态性及其与中国 5 个主要民族的遗传关系 魏曙光, 杨丽, 郑海波, 沈靓, 赖江华,, 710061 应用复合 PCR 及基因扫描技术, 对云南白族 傣族 彝族人群 X 染色体 3 个 STR 基因座 DXS6804 DXS6799 DXS7132 的遗传多态性进行研究 白族 89 个样本中共检出 18 个等位基因, 38 个基因型, 等位基因频率分布在 0.0200~0.6400 之间, 基因型频率分布在 0.0256~0.3333 之间 ; 傣族 100 个样本中共检出 17 个等位基因, 24 个基因型, 等位基因频率分布在 0.0135~0.7500 之间, 基因型频率分布在 0.0385~0.5769 之间 ; 彝族 88 个样本中共检出 20 个等位基因, 35 个基因型, 等位基因频率分布在 0.0125~0.5875 之间, 基因型频率分布在 0.0250~0.3500 之间 群体遗传多态性指标及法医学应用指标统计结果显示, 3 个基因座在云南 3 个少数民族人群中均具有高度多态性 聚类分析和系统进化关系分析发现, 彝族 白族 傣族与藏族之间的遗传关系较近 少数民族 ; 短串联重复序列 ; 遗传多态性 Genetic structure of X-STR loci in Bai, Dai and Yi ethnic groups and their affinity with five major populations of China WEI Shu-Guang, YANG Li, ZHENG Hai-Bo, SHEN Liang, LAI Jiang-Hua State Key Subject for Forensic Sciences, the Key Laboratory of National Ministry of Health for Forensic Sciences, College of Medicine, Xi an Jiaotong University, Xi an 710061, China Abstract: To determine the genetic polymorphism of three X-STR loci for Bai, Dai, Yi ethnic groups from Yunnan Province, DXS6804, DXS6799 and DXS7132 were genotyped by multiplex PCR and Genscan. Eighteen alleles and thirty-eight genotypes were detected in 89 Bai unrelated persons. The gene frequencies ranged from 0.0200 to 0.6400, and the genotypes frequencies ranged from 0.0256 to 0.3333. Seventeen alleles and twenty-four genotypes were detected in 100 Dai unrelated persons, with the gene frequencies ranging from 0.0135 to 0.7500 and the genotypes frequencies ranging from 0.0385 to 0.5769 respectively. There were 20 alleles and 35 genotypes detected in 88 Yi unrelated persons. The gene frequencies ranged from 0.0125 to 0.5875, and the genotypes frequencies ranged from 0.0250 to 0.3500. The genetic information demonstrated that the three loci are highly polymorphisms in Bai, Dai, Yi ethnic groups. Cluster analysis and phylogenic tree showed the genetic affinity between Bai, Dai, Yi, and Tibet populations. Keywords: ethnic group; short tandem repeats (STR); polymorphism 收稿日期 : 2008 05 03; 修回日期 : 2008 07 26 基金项目 : (505015), DNA (GG05150) 作者简介 : (1967 ),,,, : Tel: 029-82655474; E-mail: weisg@mail.xjtu.edu.cn 通讯作者 : (1966 ),,,, : Tel: 029-82655474; E-mail: laijh1011@mail.xjtu.edu.cn
154 HEREDITAS (Beijing) 2009 31,,, DNA,, [1] (Short tandem repeats, STR) DNA 2~6 bp, 15~30, DNA 100~350 bp STR, X, Y DNA,,, X ( ) [2],, X 300, X-STR [3, 4] X DXS6804 DXS6799 DXS7132,, 1 1.1, 89 ( 50, 39 ), 100 ( 74, 26 ), 88 ( 48, 40 ), 3 ml, EDTA Chelex-100 DNA, 4 3, 1.2 1.2.1 复合扩增 3 X-STR 5 5- (5- carboxyfluorescein, 5-FAM), 1 PCR : 12.5 μl, DXS6 804 DXS6799 DXS7132 4 pmol 6 pmol 5 pmol, 2 Master Mixture()6 μl, DNA 1 μl(20 ng/μl) PCR : 94 6 min; 94 30 s, 60 30 s, 72 30 s, 30 ; 72 10 min 表 1 X-STR 基因座的引物信息 PCR (5 3 ) DXS6804 F: CCCAGATATTTTGACCACCA R: GGCATG TGG TTGCTATAACC DXS6799 F: ATGAAT TCAGAATTATCCTCATACC R: GAACCAACCTGCTTTTCTGA DXS7132 F: AGCCCATTTTCATAATAAATCC R: AATCAGTGCTTTCTGTACTATTGG 1.2.2 基因分型 PCR GS500(ABI), 94 3 min,, GenScan, Genotyper 1.3 SPSS13.0, [5] ; ( ) Hardy-Weinberg ; Fstat [6, 7] GD(Gene diversity) Fis (Fixation index); H(Heterozygosity) PIC(Polymorphism information content) DP(Power of discrimination) PM (Match probality) PE(Power of exclusion) Powerstats [8] ;
2 : X STR 5 155 SPSS13.0 Phylip 2 2.1 X-STR ( 2), 89 18, 0.0200~0.6400 ; 100 17, 0.0135~0.7500 ; 88 20, 0.0125~0.5875 DXS6804 DXS6799 DXS7132 ( 2), 3 (P>0.05), 表 2 云南白族 傣族 彝族人群 3 个 X-STR 基因座等位基因频率及差异性检验 DXS6804 DXS6799 DXS7132 8 0.0600 0.0385 0.0200 9 0.0256 10 0.1600 0.2179 11 0.2200 0.1923 0.6400 0.5385 12 0.1000 0.1154 0.1600 0.1795 0.1800 0.1795 13 0.2800 0.3205 0.0200 0.0385 0.3000 0.2949 14 0.3200 0.2692 0.3000 0.2821 15 0.0200 0.0641 0.1600 0.1667 16 0.0600 0.0513 17 0.0256 P 0.8230 0.5060 0.9280 9 0.0192 10 0.0676 0.0962 11 0.1757 0.0577 0.6892 0.7500 0.0135 12 0.2027 0.1346 0.2162 0.1154 0.1081 0.0577 13 0.3378 0.5000 0.0270 0.0192 0.1486 0.1923 14 0.2568 0.2308 0.3919 0.4808 15 0.0135 0.0769 0.2568 0.2308 16 0.0811 0.0385 17 0.0135 P 0.0750 0.4410 0.6290 8 0.0625 0.0250 9 0.0125 10 0.1750 0.2292 0.0125 11 0.2000 0.1667 0.5875 0.5833 0.0125 12 0.1875 0.1042 0.1375 0.1042 0.0875 0.0417 13 0.4250 0.3958 0.0625 0.0833 0.1375 0.2500 14 0.1250 0.1875 0.3750 0.4375 15 0.0625 0.0833 0.2500 0.2292 16 0.0875 0.0417 17 0.0375 P 0.1830 0.7460 0.4030
156 HEREDITAS (Beijing) 2009 31 2.2 3 X-STR ( 3), 39 38, 0.0256~0.3333 ; 26 24, 0.0385~0.5769 ; 40 35, 0.0250~0.3500 表 3 云南白族 傣族 彝族人群女性 3 个 X-STR 基因座的等位基因型频率 DXS6804 DXS6799 DXS7132 DXS6804 DXS6799 DXS7132 DXS6804 DXS6799 DXS7132 8/11 0.0256 0.0250 8/12 0.0250 8/13 0.0256 8/15 0.0256 9/10 0.0256 0.0250 9/11 0.0256 9/12 0.0385 10/10 0.0256 0.0250 10/11 0.2564 0.1538 0.1750 10/12 0.0513 0.0750 10/13 0.0513 0.0385 0.0250 10/17 0.0250 11/11 0.0256 0.3333 0.5769 0.0500 0.3500 11/12 0.0769 0.1282 0.1923 0.1000 0.1750 11/13 0.0769 0.0769 0.1500 0.1000 11/14 0.1282 0.0385 0.0250 11/15 0.0256 0.0250 11/17 0.0250 12/12 0.0769 0.0385 0.0250 12/13 0.0769 0.0256 0.0769 0.1538 0.1500 0.0750 12/14 0.0513 0.1538 0.0769 0.0750 0.1000 12/15 0.0256 0.1026 0.0385 0.0385 12/16 0.0256 13/13 0.1538 0.0769 0.1923 0.2250 13/14 0.1538 0.1795 0.3077 0.1923 0.1000 0.1250 13/15 0.0769 0.1538 0.0500 13/16 0.0385 13/17 0.0250 13/18 14/14 0.0517 0.1552 0.0385 0.2308 0.0250 0.1250 14/15 0.0172 0.2241 0.0385 0.1923 0.2250 14/16 0.0690 0.0385 0.0500 14/17 15/15 0.0517 0.0385 0.0500 0.0750 15/16 0.0345 0.0750 15/17 0.0172 16/16 0.0250 17/17 0.0256
2 : X STR 5 157 2.3 3 X-STR Hardy-Weinberg SPSS13.0 Hardy- Weinberg, ( 4), DXS7132 Hardy-Weinberg (P<0.05), Hardy-Weinberg (P>0.05) Fstat [9, 10], ( 4), DXS6799 (GD<0.5), 2.4 3 X-STR ( 5), 3 X-STR 2.5 5 3 X-STR Nei s [11~15], ( 6): ; 表 4 云南白族 傣族 彝族人群 3 个 X-STR 基因座 Hardy-Weinberg 平衡检验及遗传多态性指标 (GD) (Fis) Hardy-Weinberg (P) (GD) (Fis) Hardy-Weinberg (P) (GD) (Fis) Hardy-Weinberg (P) DXS6804 0.7800 0.1120 0.2391 0.6820 0.0720 0.7683 0.7350 0.1500 0.0737 DXS6799 0.6370 0.1150 0.1427 0.4220 0.0020 0.1396 0.6080 0.0280 0.6083 DXS7132 0.7710 0.0190 0.0557 0.6860 0.0650 0.9030 0.7710 0.0060 0.0397 表 5 云南白族 傣族 彝族人群 3 个 X-STR 基因座法医学应用指标 (Ho) (He) (PIC) (PD (f)) (PD (m)) (PM) (PE) Bai DXS6804 0.7789 0.6923 0.7329 0.9106 0.7568 0.0993 0.4165 DXS6799 0.6364 0.5641 0.5773 0.7929 0.5384 0.2071 0.2500 DXS7132 0.7806 0.7949 0.7331 0.8823 0.7584 0.1180 0.5896 Dai DXS6804 0.6870 0.7308 0.6258 0.8471 0.7476 0.1746 0.4774 DXS6799 0.4223 0.4231 0.3877 0.6303 0.4730 0.3964 0.1286 DXS7132 0.6870 0.7308 10.6251 0.8449 0.7400 0.3964 0.4774 Yi DXS6804 0.7427 0.6250 0.6846 0.8841 0.7587 0.1288 0.3220 DXS6799 0.6082 0.6250 0.5616 0.8014 0.5894 0.2025 0.3220 DXS7132 0.7706 0.7750 0.7279 0.9099 0.6901 0.1160 0.5535 表 6 云南白族 傣族 彝族人群与中国 5 个主要民族之间的遗传距离 [11] [12] [13] [14] [15] 0.0000 0.1778 0.1971 0.1538 0.3213 0.3679 0.3285 0.5390 0.7732 0.5400 0.3303 0.1868 0.2013 0.0972 0.3042 0.5358 0.4383 0.7012 0.6040 0.3757 0.1671 0.6425 0.3144 0.2551 0.2056 0.2889 0.5443 0.1829 0.5968 0.0000
158 HEREDITAS (Beijing) 2009 31 ( 1), ( 2), :,, ; 图 1 云南白族 傣族 彝族人群与中国 5 个主要民族的聚类分析结果图 2 云南白族 傣族 彝族人群与中国 5 个主要民族之间的系统进化树 (UPGMA 法 ) 3,,,, ; 109,,, 1,,,,,,, X DXS6804 DXS6799 DXS7132 Hardy-Weinberg DXS7132, 3 X-STR,, 3, 3,,,,, STR [16],,,,,,,,,,, 3, X STR,
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