【摘要】：目的驗(yàn)證和評(píng)估27-plex SNPs復(fù)合擴(kuò)增系統(tǒng)(簡(jiǎn)稱27重SNP系統(tǒng))推斷種族來(lái)源的效能。方法驗(yàn)證27重SNP系統(tǒng)的靈敏度和種屬特異性;用該系統(tǒng)檢測(cè)非洲、華南地區(qū)漢族、回族、苗族、彝族、藏族、維吾爾族、歐洲、中亞、西亞、南亞、東南亞、南美洲等13個(gè)人群的533份樣本,將其分型數(shù)據(jù)與Hap Map數(shù)據(jù)庫(kù)的東亞(CHB)、歐洲(CEU)、非洲(YRI)3個(gè)代表人群的分型數(shù)據(jù)進(jìn)行聚類分析,分析祖先成分,計(jì)算匹配概率;分析46份盲測(cè)樣本的種族來(lái)源。結(jié)果該系統(tǒng)靈敏度達(dá)0.125 ng;除猩猩和猴子分別檢出20和6個(gè)位點(diǎn),其余動(dòng)物樣本僅在rs10496971位點(diǎn)檢出擴(kuò)增產(chǎn)物;該系統(tǒng)可以進(jìn)行洲際人群區(qū)分,但是無(wú)法區(qū)分東南亞與東亞人群,無(wú)法細(xì)分廣東漢族與彝族、回族、苗族和藏族等少數(shù)民族人群;盲測(cè)樣本洲際人群推斷的準(zhǔn)確率為100%。結(jié)論27重SNP系統(tǒng)靈敏度高、特異性好,可準(zhǔn)確區(qū)分個(gè)體的非洲、歐洲或東亞祖先成分。該系統(tǒng)不具備亞人群區(qū)分效力,有待后續(xù)篩選更多的特異性祖先信息標(biāo)記,以滿足區(qū)分東南亞人群以及中國(guó)不同族群的需要。
[Abstract]:Objective to verify and evaluate the effectiveness of 27-plex SNPs compound amplification system (abbreviated as 27 SNP system) in inferred racial origin. Methods the sensitivity and species specificity of 27 multiple SNP system were verified. The system was used to detect 533 samples from 13 populations of Han nationality, Hui, Miao, Yi, Tibetan, Uygur, Europe, Central Asia, West Asia, South Asia, Southeast Asia and South America in Africa and South China. The classification data were analyzed with the classification data of three representative populations of East Asian (CHB), European (CEU), Africa (YRI) in Hap Map database, and the ancestor components were analyzed and the matching probability was calculated. The ethnic origin of 46 blind samples was analyzed. Results the sensitivity of the system was 0.125 ng;, 20 and 6 loci were detected in orangutan and monkey, respectively, and only amplification products were detected in other animal samples at rs10496971 site. The system can distinguish the intercontinental population, but it can not distinguish the Southeast Asian population from the East Asian population, and can not subdivide the Guangdong Han and Yi, Hui, Miao and Tibetan ethnic minorities. The accuracy of the blind test sample intercontinental population inference is 100%. Conclusion the 27 SNP system has high sensitivity and specificity, and can accurately distinguish the ancestral components of individuals from Africa, Europe or East Asia. The system does not have the effect of subpopulation differentiation, and more specific ancestor information markers need to be screened in order to meet the needs of distinguishing Southeast Asian people from different ethnic groups in China.
【作者單位】： 南方醫(yī)科大學(xué)法醫(yī)學(xué)院;公安部物證鑒定中心//現(xiàn)場(chǎng)物證溯源國(guó)家工程實(shí)驗(yàn)室//法醫(yī)遺傳學(xué)公安部重點(diǎn)實(shí)驗(yàn)室;廣州市刑事科學(xué)技術(shù)研究所//廣東省法醫(yī)遺傳學(xué)重點(diǎn)實(shí)驗(yàn)室;天津醫(yī)科大學(xué);
【基金】：法醫(yī)遺傳學(xué)公安部重點(diǎn)實(shí)驗(yàn)室開(kāi)放課題(2015FGKFKT03) “十二五”國(guó)家科技支撐計(jì)劃項(xiàng)目(2012BAK02B01-1)
【分類號(hào)】：D919

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