遗传 ›› 2020, Vol. 42 ›› Issue (3): 296-308.doi: 10.16288/j.yczz.19-252
刘杨1,2, 孙昌春1,2, 马咪2,3, 王玲2, 赵雯婷2, 马泉2, 季安全2, 刘京2(), 李彩霞1,2()
收稿日期:
2019-11-13
修回日期:
2020-01-13
出版日期:
2020-03-20
发布日期:
2020-01-17
通讯作者:
刘京,李彩霞
E-mail:biojing@yeah.net;licaixia@tsinghua.org.cn
作者简介:
刘杨,硕士研究生,研究方向:法医学。E-mail: 基金资助:
Yang Liu1,2, Changchun Sun1,2, Mi Ma2,3, Ling Wang2, Wenting Zhao2, Quan Ma2, Anquan Ji2, Jing Liu2(), Caixia Li1,2()
Received:
2019-11-13
Revised:
2020-01-13
Online:
2020-03-20
Published:
2020-01-17
Contact:
Liu Jing,Li Caixia
E-mail:biojing@yeah.net;licaixia@tsinghua.org.cn
Supported by:
摘要:
使用一组祖源SNP可以分析某人群的遗传成分,推断某个体的族群来源。本课题组前期筛选出74个SNP位点实现了撒哈拉以南的非洲、北非、欧洲、美洲、大洋洲、南亚、西南亚、东亚、东北亚和东南亚等10个地理区域人群的推断,并基于MassARRAY质谱分析技术构建了74-plex SNPs复合检测体系。本研究利用该体系对14个中国人群1371份样本进行基因分型,验证评估该体系对中国人群的区分能力和法医学应用效能。首先,基于全球57个人群3628份个体构建参考人群分型库,采用Structure分析和等位基因频率热图等方法进行人群区分能力评估;然后,选取千人基因组计划中3个人群(不包含在参考人群分型库中)及本实验室检测的14个人群共计1654个体作为测试数据集,通过似然比和族群成分等统计分析,评估该体系对实际样本的族群来源推断能力。结果表明,DNA的量最低为1.5 ng时,74个SNP均可正确判型,适用于微量检材的检测;该体系对全球10个地理区域人群有区分能力,针对测试人群中欧洲、美洲、南部非洲个体族群来源推断的准确率为95.4%、不排除率为1.06%,东亚个体推断的准确率为71.0%、不排除率为17.9%,东南亚个体推断的准确率66.4%、不排除率为 33.3%。该方法可以为实际案件侦察提供线索。
刘杨, 孙昌春, 马咪, 王玲, 赵雯婷, 马泉, 季安全, 刘京, 李彩霞. 74-plex SNPs复合检测体系在中国人群中的族群推断研究[J]. 遗传, 2020, 42(3): 296-308.
Yang Liu, Changchun Sun, Mi Ma, Ling Wang, Wenting Zhao, Quan Ma, Anquan Ji, Jing Liu, Caixia Li. The ancestry inference of Chinese populations using 74-plex SNPs system[J]. Hereditas(Beijing), 2020, 42(3): 296-308.
表1
测试人群样本信息表"
代码 | 人群信息 | 数量 | 样本来源 |
---|---|---|---|
EIC | 内蒙古鄂温克族人 | 35 | 本实验室 |
DIC | 内蒙古达斡尔族人 | 34 | 本实验室 |
MIC | 内蒙古蒙古族人 | 135 | 本实验室 |
TUQ | 青海土族人 | 116 | 本实验室 |
CCT | 西藏藏族人 | 143 | 本实验室 |
CHQ | 青海汉族人 | 100 | 本实验室 |
CHL | 青岛汉族人 | 94 | 本实验室 |
CHN | 河南汉族人 | 107 | 本实验室 |
HGC | 广西汉族人 | 79 | 本实验室 |
CHG | 广东汉族人 | 46 | 本实验室 |
HCM | 广东梅州客家汉族人 | 50 | 本实验室 |
DGC | 广西侗族人 | 155 | 本实验室 |
CDY | 云南傣族人 | 93 | 本实验室 |
KGC | 广西京族人 | 184 | 本实验室 |
ESN | 非洲尼日利亚人 | 99 | 千人基因组 |
FIN | 芬兰人 | 99 | 千人基因组 |
PEL | 秘鲁人 | 85 | 千人基因组 |
表2
每个反应孔中的SNP位点信息"
反应孔 | 序号 | SNP编号 | 染色体 | 位置 | 等位基因 | 反应孔 | 序号 | SNP编号 | 染色体 | 位置 | 等位基因 |
---|---|---|---|---|---|---|---|---|---|---|---|
Well 1 | 1 | rs10496971 | 2 | 145769943 | G/T | Well 2 | 38 | rs1513056 | 12 | 17407792 | A/G |
Well 1 | 2 | rs10511828 | 9 | 28628500 | C/T | Well 2 | 39 | rs174574 | 11 | 61600342 | A/C |
Well 1 | 3 | rs10512572 | 17 | 69512099 | A/G | Well 2 | 40 | rs17822931 | 16 | 48258198 | C/T |
Well 1 | 4 | rs10516441 | 4 | 100307167 | A/G | Well 2 | 41 | rs1876482 | 2 | 17362568 | A/G |
Well 1 | 5 | rs12913832 | 15 | 28365618 | A/G | Well 2 | 42 | rs192655 | 6 | 90518278 | A/G |
Well 1 | 6 | rs1426654 | 15 | 48426484 | A/G | Well 2 | 43 | rs1950993 | 14 | 58238687 | G/T |
Well 1 | 7 | rs1572018 | 13 | 41715282 | C/T | Well 2 | 44 | rs2006996 | 9 | 117592638 | C/T |
Well 1 | 8 | rs16891982 | 5 | 33951693 | C/G | Well 2 | 45 | rs2125345 | 17 | 73782191 | C/T |
Well 1 | 9 | rs17028973 | 4 | 100322786 | C/T | Well 2 | 46 | rs2238151 | 12 | 112211833 | C/T |
Well 1 | 10 | rs1800414 | 15 | 28197037 | C/T | Well 2 | 47 | rs3118378 | 1 | 68849687 | A/G |
Well 1 | 11 | rs1871428 | 6 | 168665760 | A/G | Well 2 | 48 | rs37369 | 5 | 35037115 | C/T |
Well 1 | 12 | rs2033111 | 17 | 53788280 | A/G | Well 2 | 49 | rs3814134 | 9 | 127267689 | A/G |
Well 1 | 13 | rs2241894 | 4 | 100266133 | C/T | Well 2 | 50 | rs4833103 | 4 | 38815502 | A/C |
Well 1 | 14 | rs2242480 | 7 | 99361466 | C/T | Well 2 | 51 | rs6451722 | 5 | 43711378 | A/G |
Well 1 | 15 | rs2702414 | 4 | 179399523 | A/G | Well 2 | 52 | rs647325 | 1 | 18170886 | A/G |
Well 1 | 16 | rs2899826 | 15 | 74734500 | A/G | Well 2 | 53 | rs6990312 | 8 | 110602317 | G/T |
Well 1 | 17 | rs316598 | 5 | 2364626 | C/T | Well 2 | 54 | rs7226659 | 18 | 40488279 | G/T |
Well 1 | 18 | rs3737576 | 1 | 101709563 | C/T | Well 2 | 55 | rs7238445 | 18 | 49781544 | A/G |
Well 1 | 19 | rs3811801 | 4 | 100244319 | A/G | Well 2 | 56 | rs7554936 | 1 | 151122489 | C/T |
Well 1 | 20 | rs3827760 | 2 | 109513601 | A/G | Well 2 | 57 | rs8035124 | 15 | 92105708 | A/C |
Well 1 | 21 | rs385194 | 4 | 85309078 | A/G | Well 2 | 58 | rs917115 | 7 | 28172586 | C/T |
Well 1 | 22 | rs459920 | 16 | 89730827 | C/T | Well 2 | 59 | rs9319336 | 13 | 27624356 | C/T |
Well 1 | 23 | rs4908343 | 1 | 27931698 | A/G | Well 3 | 60 | rs1229984 | 4 | 100239319 | C/T |
Well 1 | 24 | rs671 | 12 | 112241766 | A/G | Well 3 | 61 | rs174570 | 11 | 61597212 | C/T |
Well 1 | 25 | rs6754311 | 2 | 136707982 | C/T | Well 3 | 62 | rs2024566 | 22 | 41697338 | A/G |
Well 1 | 26 | rs734873 | 3 | 147750355 | A/G | Well 3 | 63 | rs2166624 | 13 | 42579985 | A/G |
Well 1 | 27 | rs7997709 | 13 | 34847737 | C/T | Well 3 | 64 | rs2814778 | 1 | 159174683 | C/T |
Well 1 | 28 | rs8003942 | 14 | 105971670 | A/G | Well 3 | 65 | rs2986742 | 1 | 6550376 | C/T |
Well 1 | 29 | rs8113143 | 19 | 33652247 | A/C | Well 3 | 66 | rs310644 | 20 | 62159504 | C/T |
Well 1 | 30 | rs870347 | 5 | 6845035 | A/C | Well 3 | 67 | rs4670767 | 2 | 37941396 | G/T |
Well 1 | 31 | rs9522149 | 13 | 111827167 | C/T | Well 3 | 68 | rs6054605 | 20 | 744570 | A/G |
Well 2 | 32 | rs10108270 | 8 | 4190793 | A/C | Well 3 | 69 | rs735480 | 15 | 45152371 | C/T |
Well 2 | 33 | rs10236187 | 7 | 139447377 | A/C | Well 3 | 70 | rs7722456 | 5 | 170202984 | C/T |
Well 2 | 34 | rs1040404 | 1 | 168159890 | A/G | Well 3 | 71 | rs7745461 | 6 | 21911616 | A/G |
Well 2 | 35 | rs10513300 | 9 | 120130206 | C/T | Well 3 | 72 | rs798443 | 2 | 7968275 | A/G |
Well 2 | 36 | rs11652805 | 17 | 62987151 | C/T | Well 3 | 73 | rs8021730 | 14 | 67886781 | G/T |
Well 2 | 37 | rs13400937 | 2 | 79864923 | G/T | Well 3 | 74 | rs818386 | 16 | 65406708 | C/T |
表3
测试样本的族群推断结果"
测试人群(代码) | 来源区域 | 预测第1位的人群(LR>10) | 不排除 (LR≤10) | 错误 | 样本 数量 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
撒哈拉以 南的非洲 | 北非 | 欧洲 | 东亚 | 东北亚 | 东南亚 | 美洲 | |||||
内蒙古达斡尔族(DIC) | EA(东亚) | 19 (0.42) | 8 (0.45) | 4 | 3 | 34 | |||||
内蒙古鄂温克族(EIC) | EA(东亚) | 24 (0.56) | 3(0.31) | 3 | 5 | 35 | |||||
内蒙古蒙古族(MIC) | EA(东亚) | 59 (0.31) | 37 (0.56) | 2 | 26 | 13 | 135 | ||||
青海土族(TUQ) | EA(东亚) | 76 (0.26) | 3 (0.63) | 20 | 17 | 116 | |||||
青海汉族(CHQ) | EA(东亚) | 74 (0.41) | 3 (0.46) | 5 | 18 | 100 | |||||
西藏藏族(CTT) | EA(东亚) | 71 (0.14) | 17 (0.78) | 2 | 36 | 19 | 143 | ||||
河南汉族(CHN) | EA(东亚) | 87 (0.65) | 1 (0.15) | 2 (0.15) | 1 | 19 | 107 | ||||
青岛汉族(CHL) | EA(东亚) | 85 (0.61) | (0.28) | 1 | 0 | 9 | 94 | ||||
广东汉族(CHG) | EA(东亚) | 13 (0.49) | 13 (0.45) | 20 | 46 | ||||||
广西汉族(HGC) | EA(东亚) | 13 (0.31) | 30 (0.60) | 36 | 79 | ||||||
广东客家汉族(HCM) | EA(东亚) | 17(0.38) | 15 (0.53) | 17 | 1 | 50 | |||||
广西侗族(DGC) | SEA(东南亚) | 27 (0.32) | 65 (0.62) | 63 | 155 | ||||||
广西京族(KGC) | SEA(东南亚) | 16 (0.21) | 109 (0.73) | 58 | 1 | 184 | |||||
云南傣族(CDY) | SEA(东南亚) | 6 (0.18) | 64 (0.76) | 23 | 93 | ||||||
非洲尼日利亚人 (ESN) | S-AFR(撒哈拉 以南的非洲) | 99 (0.98) | 0 | 99 | |||||||
芬兰人(FIN) | EUR(欧洲) | 99 (0.93) | 0 | 99 | |||||||
秘鲁人(PEL) | AME(美洲) | 1 | 3 | 72(0.74) | 3 | 10 | 85 |
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