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新疆維吾爾族群體19個(gè)STR基因座遺傳多態(tài)性

2016-12-22 02:59:49陳鵬宇韓巖巖謝成明
關(guān)鍵詞:基因座法醫(yī)學(xué)維吾爾族

陳鵬宇,王 斌,韓巖巖,謝成明,余 艦

(1.遵義醫(yī)學(xué)院附屬醫(yī)院 司法醫(yī)學(xué)鑒定中心,貴州 遵義 563099;2.天津市公安局 物證鑒定中心,天津 300384;3.遵義醫(yī)學(xué)院公共衛(wèi)生學(xué)院 營養(yǎng)與食品衛(wèi)生教研室, 貴州 遵義 563099)

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臨床醫(yī)學(xué)研究

新疆維吾爾族群體19個(gè)STR基因座遺傳多態(tài)性

陳鵬宇1,王 斌2,韓巖巖3,謝成明1,余 艦1

(1.遵義醫(yī)學(xué)院附屬醫(yī)院 司法醫(yī)學(xué)鑒定中心,貴州 遵義 563099;2.天津市公安局 物證鑒定中心,天津 300384;3.遵義醫(yī)學(xué)院公共衛(wèi)生學(xué)院 營養(yǎng)與食品衛(wèi)生教研室, 貴州 遵義 563099)

目的 對(duì)新疆地區(qū)維吾爾族人群19個(gè)短串聯(lián)重復(fù)序列(Short tandem repeats, STR)基因座的遺傳多態(tài)性進(jìn)行研究,評(píng)價(jià)其在法醫(yī)學(xué)個(gè)體識(shí)別、親子鑒定中的應(yīng)用價(jià)值,并分析與其它不同群體的遺傳關(guān)系。方法 應(yīng)用GoldeneyeTM20A試劑盒對(duì)來自新疆維吾爾族的101例無關(guān)個(gè)體進(jìn)行19個(gè)STR基因座的復(fù)合擴(kuò)增,ABI 3130XL 全自動(dòng)測(cè)序儀對(duì)擴(kuò)增產(chǎn)物進(jìn)行電泳分離,GeneMapper v3.2 軟件進(jìn)行基因分型,統(tǒng)計(jì)各基因座等位基因頻率及法醫(yī)學(xué)參數(shù),并結(jié)合已公開報(bào)道的其他17個(gè)群體遺傳多態(tài)性數(shù)據(jù),計(jì)算群體間遺傳距離,構(gòu)建系統(tǒng)發(fā)生樹。結(jié)果 GoldeneyeTM20A系統(tǒng)的19個(gè)STR基因座在新疆維吾爾族人群的基因型分布均符合Hardy-Weinberg平衡,且各基因座之間均不存在連鎖現(xiàn)象,19個(gè)STR累積的個(gè)人識(shí)別率為0.99999999999999999999993,累積的非父排除率為0.999999997481278。群體間遺傳關(guān)系分析顯示,新疆維吾爾族與新疆哈薩克族首先聚類,其它14個(gè)漢族群體及云南白族,遼寧滿族聚為一大類。結(jié)論 19個(gè)STR組成的復(fù)合檢測(cè)系統(tǒng)在新疆維吾爾族人群中具有高度的多態(tài)性和鑒別能力,可用于該群體法醫(yī)學(xué)個(gè)體識(shí)別、親權(quán)鑒定及群體遺傳學(xué)研究。

短串聯(lián)重復(fù)序列;遺傳多態(tài)性;新疆維吾爾族;群體遺傳

短串聯(lián)重復(fù)序列(Short tandem repeats, STR)是一類廣泛存在于人類基因組中具有高度多態(tài)性的DNA 序列,具有分型簡(jiǎn)便快速、易于標(biāo)準(zhǔn)化和自動(dòng)化等特點(diǎn),是法醫(yī)物證鑒定的主要目標(biāo)序列之一[1],目前國內(nèi)外已有多樣化的商品化STR復(fù)合檢測(cè)試劑盒用于法醫(yī)個(gè)體識(shí)別和親子鑒定[2]。GoldeneyeTM20A復(fù)合STR檢測(cè)系統(tǒng)的19個(gè)STR基因座包含了中國國家DNA數(shù)據(jù)庫所選用其它試劑盒中的全部STR 基因座,具有更好的數(shù)據(jù)庫檢索兼容性和準(zhǔn)確性,以及更高的多態(tài)性和法醫(yī)學(xué)鑒別能力[3]。我國維吾爾族為新疆地區(qū)世居的少數(shù)民族,具有其獨(dú)特的歷史、地理、文化以及群體遺傳學(xué)特征,對(duì)其進(jìn)行STR基因座遺傳多態(tài)性研究,建立相應(yīng)群體遺傳學(xué)數(shù)據(jù),對(duì)涉及該群體法醫(yī)學(xué)個(gè)體識(shí)別和親權(quán)鑒定案件的準(zhǔn)確評(píng)估,以及群體遺傳學(xué)研究具有重要意義[4]。本研究采用GoldeneyeTM20A復(fù)合STR檢測(cè)系統(tǒng),對(duì)新疆維吾爾族人群19個(gè)STR基因座(D8S1179,D21S11,D7S820,CSFIPO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,vWA,TPOX,D18S51,D5S818,F(xiàn)GA,Penta D,Penta E,D6S1043,D12S391)遺傳多態(tài)性進(jìn)行了調(diào)查,評(píng)價(jià)其在法醫(yī)學(xué)個(gè)體識(shí)別、親子鑒定中的應(yīng)用價(jià)值,并分析了與其它不同群體的遺傳關(guān)系。

1 對(duì)象與方法

1.1 研究對(duì)象 經(jīng)知情同意,隨機(jī)采集新疆地區(qū)維吾爾族101名健康、無血緣關(guān)系個(gè)體(男 68名,女33名)外周血1 mL,EDTA抗凝,Chelex-100 法提取基因組DNA[5]。

1.2 PCR擴(kuò)增 按照產(chǎn)品指南,采用GoldeneyeTM20A PCR試劑盒(北京基點(diǎn)認(rèn)知公司)對(duì)19個(gè)STR基因座(D8S1179, D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,vWA,TPOX,D18S51,D5S818,FGA,PentaD,Penta E, D6S1043和D12S391)及牙釉基因進(jìn)行復(fù)合擴(kuò)增,PCR反應(yīng)在ABI 9700型擴(kuò)增儀上進(jìn)行。

1.3 分型和命名 擴(kuò)增產(chǎn)物采用ABI 3130XL型遺傳分析儀電泳分離,使用GeneMapper ID Version 3.2軟件包[6]進(jìn)行等位基因分型。在對(duì)每一批次樣本檢測(cè)中,以DNA 9947A作為陽性對(duì)照,去離子水作為陰性對(duì)照。等位基因命名通過與廠家提供的等位基因分型標(biāo)準(zhǔn)物比較,并按照國際法醫(yī)遺傳學(xué)會(huì)(International Society for Forensic Genetics,ISFG)推薦的原則進(jìn)行命名。

1.4 統(tǒng)計(jì)學(xué)分析 采用Powerstats V1.2[7]軟件對(duì)各基因座進(jìn)行Hardy-Weinberg平衡檢驗(yàn),采用SHEsis[8]軟件包進(jìn)行19個(gè)STR基因座的配對(duì)連鎖不平衡檢驗(yàn)。采用Powerstats V1.2軟件計(jì)算等位基因頻率、雜合度(heterozygosity,He)、多態(tài)性信息量(polymorphism information content,PIC)、個(gè)人識(shí)別率(power of discrimination,PD)以及非父排除率(probability of exclusion,PE)。應(yīng)用公式[9]計(jì)算累積個(gè)人識(shí)別率(cumulative power of discrimination,CDP)和累積非父排除率(cumulative probability of exclusion,CPE)。

通過文獻(xiàn)檢索獲得來自不同地區(qū)14個(gè)漢族和3個(gè)少數(shù)民族共17個(gè)群體的等位基因頻率數(shù)據(jù)[2-7],基于共有的19個(gè)基因座,應(yīng)用Phylip 3.695軟件包[10]計(jì)算18個(gè)群體間的Nei’s遺傳距離,應(yīng)用Mega 7.0軟件包[11]構(gòu)建相鄰連接(Neighbour-Joining, NJ)系統(tǒng)發(fā)生樹。

2 結(jié)果

2.1 等位基因頻率分布 在受檢的101例新疆維吾爾族無關(guān)個(gè)體中,19個(gè)STR基因座上共檢出190個(gè)等位基因,等位基因頻率分布在0.005 0~0.535 0(見表1)。

表1 新疆維吾爾族群體19個(gè)STR基因座等位基因頻率分布(n=101)

D2S1338AFAFD3S1358AFD3S1358AFD16S539AFTH01AFCSF1POAF100.0050220.0400110.005070.015080.005060.160090.0400160.0100230.1650140.050090.075090.170070.2600100.2450170.1100240.0950150.3300100.1350100.120080.1300110.2550180.1300250.0600160.3500110.3850110.345090.2900120.4000190.2250260.0150170.2000120.2500120.20509.30.1600130.0500200.1000270.0100180.0650130.1300130.1350140.0100210.0300280.0050140.0100140.0200D7S820AFD8S1179AFD13S317AFTPOXAFvWAAFPentaEAFAF70.015280.020080.145070.0050130.005050.0650160.070080.1515100.130090.100080.5350140.145070.0850170.115090.0960110.0400100.065090.0950150.080080.0100180.06009.10.0000120.0900110.2750100.0550160.185090.0050190.0450100.2475130.2850120.3050110.2750170.2700100.080019.40.005010.10.0051140.1900130.0800120.0300180.1800110.0950200.0200110.2677150.1850140.0250130.0050190.1250120.0850210.020011.10.0000160.0500190.0050200.0100130.0600220.0050120.2020170.0100140.0650230.0100130.0152150.0900240.0100D6S1043AFAFD12S391AFPentaDAFD18S51AFD19S433AFD21S11AFFGAAF90.0050170.095060.0100100.0050100.0100270.010015.20.0050100.0200180.155080.0150120.0800120.040027.20.0050180.0100110.215018.30.015090.2650130.1850130.2500280.0950190.0600120.1450190.1700100.1500140.220013.20.020028.20.0050200.1050130.1350200.1850110.1950150.1400140.3950290.2250210.1200140.0950210.1700120.1300160.110014.20.0450300.285021.20.0100150.0050220.1200130.1550170.0800150.055030.20.0150220.1900160.0150230.0700140.0550180.050015.20.0950310.090022.20.0100170.0350240.0150150.0150190.0400160.050031.20.0900230.1700180.1250250.0050160.0050200.040016.20.0200320.0250240.2050190.1600170.0050210.025016.30.005032.20.125024.20.0050200.0450220.0250170.0100330.0050250.095018.20.005033.20.0250260.0100280.0050

A:等位基因;F:等位基因頻率

2.2 法醫(yī)學(xué)參數(shù) 對(duì)19個(gè)STR進(jìn)行Hardy-Weinberg平衡檢驗(yàn),P值為0.090 8~0.994 0(見表2),各基因座基因型分布符合Hardy-Weinberg衡。對(duì)19個(gè)基因座兩兩之間的連鎖不平衡檢驗(yàn),r2為0.005~0.030,所有基因座之間不存在連鎖不平衡現(xiàn)象。

新疆維吾爾族群體中19個(gè)STR基因座的He值為0.070 0~0.440 0;PIC值為0.572 4~0.920 0;DP值為0.805 8~0.979 2,PE值為0.245 6~0.857 0,其中多態(tài)性最低的基因座為TPOX,多態(tài)性最高的基因座為Pent E。19個(gè)STR累積的個(gè)人識(shí)別率為0.99999999999999999999993,累積的非父排除率為 0.999999997481278。

表2 新疆維吾爾族群體19個(gè)STR基因座法醫(yī)學(xué)參數(shù)

基因座HePICDPPEHWE基因座HePICDPPEHWED2S13380.87000.85390.95780.73460.9544D19S4330.76000.73410.90320.52700.8858D3S13580.65000.67300.87380.35520.0908D21S110.79000.80490.94160.58060.2896D5S8180.72000.71130.90220.45990.4593PentaD0.82000.80170.93960.63670.8144D6S10430.88000.84470.95640.75480.6541PentaE0.93000.92000.97920.85700.9906D7S8200.85860.76220.91130.71190.1314CSF1PO0.77000.66050.84200.54460.2177D8S11790.82000.79550.93640.63670.9381TH010.85000.74510.90200.69490.1093D12S3910.84000.83790.94540.67530.5758TPOX0.56000.57240.80580.24560.1576D13S3170.76000.75950.92560.52700.4151FGA0.88000.83760.95360.75480.5417D16S5390.80000.74460.91620.59900.6443vWA0.88000.79220.93060.75480.1261D18S510.87000.85210.96120.73460.9940

He:雜合度;PIC: 多態(tài)性信息量;DP:個(gè)人識(shí)別率;PE:非父排除率;HWE:Hardy-Weinberg平衡檢驗(yàn)的P值,P< 0.05 有統(tǒng)計(jì)學(xué)意義。

2.3 18個(gè)群體間遺傳距離及系統(tǒng)發(fā)生樹 根據(jù)19個(gè)STR基因座計(jì)算得到18個(gè)群體間的Nei’s遺傳距離(見表3)可見,新疆維吾爾族與新疆哈薩克族[12]的遺傳距離最近(0.0292),其次為遼寧回族[13](0.0388),與其它群體距離均較遠(yuǎn)(0.0414~0.0664)。14個(gè)漢族群體[14-16]間的遺傳距離均較近,而且集中于一個(gè)較小的數(shù)值范圍(0.0008~0.0237)。

根據(jù)18個(gè)群體Nei’s遺傳距離構(gòu)建的相鄰連接系統(tǒng)發(fā)生樹(見圖1)可見,新疆維吾爾族與新疆哈薩克族[12]首先聚類,其它14個(gè)漢族群體及云南白族[17],遼寧回族[13]聚為一大類。在14個(gè)漢族群體中,山東漢族、河北漢族 ,河南漢族、安徽漢族,山西漢族、甘肅漢族、江蘇漢族聚集為一個(gè)亞類,而山東漢族-河北漢族、河南漢族-安徽漢族、山西漢族-甘肅漢族分別形成三個(gè)獨(dú)立的分支;云南漢族、四川漢族、江西漢族、閩南漢族、閩西漢族、廣東漢族聚集成另一個(gè)亞類。

圖1 基于Nei’s遺傳距離構(gòu)建的新疆維吾爾族和其它17個(gè)中國人群的相鄰連接系統(tǒng)發(fā)生樹

表3 新疆維吾爾族和17個(gè)群體之間的Nei’s遺傳距離

Nei’s新疆維吾爾族新疆哈薩克族遼寧回族云南白族云南漢族河南漢族湖北漢族山東漢族四川漢族山西漢族甘肅漢族河北漢族江西漢族閩南漢族閩西漢族廣東漢族江蘇漢族安徽漢族新疆維吾爾族0.0000新疆哈薩克族0.02920.0000遼寧回族0.03880.04370.0000云南白族0.04300.04870.00910.0000云南漢族0.04390.05130.00610.00460.0000河南漢族0.04140.05310.00860.00750.00490.0000湖北漢族0.04440.05250.00630.00490.00080.00510.0000山東漢族0.05620.06100.01010.01040.00660.00850.00720.0000四川漢族0.04610.05410.01070.00810.00400.00980.00430.01050.0000山西漢族0.04320.05050.00680.00590.00380.00430.00460.00710.00920.0000甘肅漢族0.04740.05760.01220.01150.00790.01070.00890.01380.01380.00820.0000河北漢族0.06640.07100.01980.01990.01470.01590.01480.01700.01790.01520.02370.0000江西漢族0.05630.06120.00990.00920.00550.01210.00520.01170.00990.00950.01610.01970.0000閩南漢族0.04960.06040.01130.01160.00590.01050.00610.01220.00920.00990.01430.01940.00800.0000閩西漢族0.04690.05460.00950.00810.00330.00950.00320.01050.00510.00910.01260.01630.00650.00630.0000廣東漢族0.04930.05750.01290.01010.00530.01400.00580.01480.00680.01230.01680.02240.00790.00740.00430.0000江蘇漢族0.04440.05160.00640.00500.00180.00430.00190.00620.00610.00350.00820.01520.00730.00790.00590.00920.0000安徽漢族0.04810.05910.01180.01210.00690.00780.00690.01110.01010.00720.01290.01880.01460.01510.01140.01680.00640.0000

3 討論

維吾爾族是我國主要少數(shù)民族之一,據(jù)2010年人口普查數(shù)據(jù),其人口總數(shù)達(dá)10,069,346,居少數(shù)民族人口第4位[18]。約80%的維吾爾族聚居在新疆維吾爾自治區(qū)天山以南的喀什、和田一帶、阿克蘇和庫爾勒地區(qū),為地理上相對(duì)封閉隔離的群體。維吾爾族在不同的歷史時(shí)期,經(jīng)歷了與不同民族、語言的復(fù)雜融合,現(xiàn)代維吾爾語為維吾爾族的共同語言,屬阿爾泰語系突厥語族。特殊的地理、歷史和文化背景,意味著新疆維吾爾族獨(dú)特的群體遺傳結(jié)構(gòu)特征,對(duì)其進(jìn)行STR基因座遺傳多態(tài)性研究,建立適合新疆維吾爾族人群的群體遺傳學(xué)基礎(chǔ)數(shù)據(jù),對(duì)涉及該群體個(gè)體識(shí)別和親權(quán)鑒定案件的準(zhǔn)確評(píng)估,以及群體遺傳學(xué)研究具有重要意義[4]。

目前許多商品化的試劑盒應(yīng)用于中國國家DNA數(shù)據(jù)庫(National DNA database,NDNAD),如 Identifiler、Sinofiler、PowerPlex 16、PowerPlex 18D、Goldeneye 16A、AGCU 17+1等,這些試劑盒包含了15~17個(gè)基因座,但是不同試劑盒之間僅有11個(gè)共有的STR基因座,GoldeneyeTM20A 復(fù)合STR檢測(cè)系統(tǒng)由19個(gè)STR基因座和1個(gè)判定性別的牙釉基因構(gòu)成,包含了中國國家DNA數(shù)據(jù)庫所選用的這些試劑盒中的全部 STR 基因座,在數(shù)據(jù)庫信息檢索時(shí),可實(shí)現(xiàn)對(duì)同一樣本數(shù)據(jù)中更多STR分型信息的比對(duì),提高了數(shù)據(jù)庫檢索的兼容性和準(zhǔn)確性[3]。同時(shí),使用更多的STR基因座,也意味著更高的多態(tài)性和法醫(yī)學(xué)鑒別能力[19]。

本研究采用GoldeneyeTM20A試劑盒19個(gè)基因座對(duì)新疆維吾爾族群體進(jìn)行遺傳多態(tài)性調(diào)查,在19個(gè)基因座上都達(dá)到了Hardy-Weinberg平衡,說明群體樣本采集符合統(tǒng)計(jì)學(xué)要求,群體分型數(shù)據(jù)可信。19個(gè)STR配對(duì)連鎖不平衡檢驗(yàn)均符合連鎖平衡,說明基因座之間無連鎖關(guān)系,因此可以直接應(yīng)用乘積定律,計(jì)算代表19個(gè)STR組成的復(fù)合系統(tǒng)總體鑒別能力的累積個(gè)人識(shí)別率和累積非父排除率,以及該復(fù)合系統(tǒng)在具體個(gè)案分析中相應(yīng)的匹配概率和父權(quán)指數(shù)。

STR 多態(tài)性程度及其應(yīng)用價(jià)值一般用雜合度、多態(tài)信息量、個(gè)體識(shí)別力和非父排除率等法醫(yī)學(xué)參數(shù)進(jìn)行評(píng)估。雜合度和多態(tài)性客觀地反映了一個(gè)遺傳標(biāo)記的多態(tài)性水平,個(gè)人識(shí)別率和非父排除率則分別反映了遺傳標(biāo)記在法醫(yī)學(xué)個(gè)人識(shí)別和親子鑒定中的鑒別能力。 一個(gè)遺傳標(biāo)記的多態(tài)性越高,應(yīng)用于法醫(yī)的鑒別能力也會(huì)越高。Shriver等[9]認(rèn)為當(dāng)一個(gè)基因座DP>0.80、PE>0.50 時(shí),屬高度多態(tài)性遺傳標(biāo)記,具有較好的應(yīng)用價(jià)值。在本研究的19個(gè)基因座中,除與其它試劑盒共有的D3S1358、D5S818、TPOX 3個(gè)基因座外,其余16個(gè)STR基因座均具有高度多態(tài)性。在法醫(yī)學(xué)個(gè)人識(shí)別、親子鑒定及群體遺傳研究中具有較高的應(yīng)用價(jià)值。按照乘積定律計(jì)算,19個(gè)STR累積的個(gè)人識(shí)別率和非父排除率分別高達(dá)0.99999999999999999999993和0.999999997481278,說明由該19個(gè)STR 組成的復(fù)合檢測(cè)系統(tǒng) GoldeneyeTM20A 在新疆維吾爾族人群中具有高度的多態(tài)性和鑒別能力,適用于該地區(qū)人群法醫(yī)學(xué)個(gè)人識(shí)別和親子鑒定。

遺傳距離計(jì)算和聚類分析顯示新疆維吾爾族和新疆哈薩克族的遺傳關(guān)系接近,與遼寧回族的遺傳關(guān)系相對(duì)較近,與14個(gè)不同地區(qū)漢族的遺傳關(guān)系均較遠(yuǎn)。18個(gè)群體中,新疆維吾爾族和新疆哈薩克族屬于阿爾泰語系,其它均屬漢藏語系。提示不同語系民族之間具有遺傳差異,同一語系的民族具有相近的遺傳關(guān)系,該結(jié)果與以往對(duì)其它民族群體遺傳關(guān)系分析得出的規(guī)律一致[10]。14個(gè)漢族群體的遺傳關(guān)系較為接近,并呈現(xiàn)出一定的南北方地理分布的差異及連續(xù)過渡的特征,同時(shí)在地理位置上接近的群體,如山東漢族-河北漢族,河南漢族-安徽漢族,山西漢族-甘肅漢族分別聚集為不同的分支,說明地理上越接近的群體,遺傳關(guān)系越近。

綜上所述,本研究對(duì)新疆維吾爾族人群19個(gè)STR基因座遺傳多態(tài)性進(jìn)行調(diào)查,建立了該群體的遺傳多態(tài)性數(shù)據(jù),19個(gè)STR基因座組成的復(fù)合檢測(cè)系統(tǒng)在新疆維吾爾族具有高度的多態(tài)性和鑒別能力,可用于該群體法醫(yī)學(xué)個(gè)體識(shí)別、親權(quán)鑒定及群體遺傳學(xué)研究。

[1] Edwards A, Civitello A, Hammond H A, et al. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats[J]. Am J Hum Genet,1991,49(4): 746-756.

[2] 阮修艷, 王偉妮, 楊雅冉,等. 北京漢族群體39 個(gè)短串聯(lián)重復(fù)序列基因座多態(tài)性及其遺傳關(guān)系[J]. 遺傳, 2015,37(7): 683-691.

[3] 王潔, 黃艷梅, 張慶霞,等. 國產(chǎn)GoldeneyeTM20A試劑盒性能指標(biāo)驗(yàn)證[J]. 中國法醫(yī)學(xué)雜志,2012,27(1): 12-15.

[4] Hering S, Nixdorf R, Dressier J, et al. Identification of more sequence variations in the D8S1179 locus [J]. Forensic Sci Int, 2005,149(2): 275-278.

[5] Walsh P S, Metzger D A, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material[J]. Biotechniques, 1991,10(4): 506-513.

[6] Gene MapperTMID Software v3.2 User Guide[EB/OL]. (2006). http://www.appliedbiosystems.com.

[7] Tereba A. Tools for analysis of population statistics Profiles, PowerStats Version 1.2, Promega Corporation[EB/OL]. (1999). http://www.promega.com/geneticidtools/powerstats/.

[8] Shi Y Y, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci[J]. Cell Res, 2005,15(2):97-98.

[9] 侯一平, 王寶捷, 郭大瑋. 法醫(yī)物證學(xué)[M]. 第3版. 北京: 人民衛(wèi)生出版社, 2009: 22-23.

[10] Felsenstein J. PHYLIP, the PHYLogeny Inference Package, Version 3.695, Department of Genome Sciences and Department of Biology, University of Washington[EB/OL]. (2013). http://evolution.gs.washington.edu/phylip.html.

[11] Sudhir K, Glen S, Koichiro T. MEGA7: Molecular Evolutionary Genetics Analysis version 7.0[EB/OL]. (2015). http://www.kumarlab.net/publications.

[12] Zhang L P, Xu C B, Chen H J, et al. Genetic polymorphism of 19 STR loci in Xinjiang Barkol Kazakh population[J]. J Cent South Univ (Med Sci),2012,37(9): 934-938.

[13] 沈紅纓, 喻少波, 郭飛, 等. 遼寧回族人群19個(gè)STR基因座遺傳多態(tài)性[J]. 中國法醫(yī)學(xué)雜志,2013,28(6): 504-505.

[14] Wang H D, Wu D, Feng Z Q, et al. Genetic polymorphisms of 20 short tandem repeat loci from the Han population in Henan, China[J]. Electrophoresis,2014,35(10): 1509-1514.

[15] Yin C Y, Ji Q, Li K, et al. Analysis of 19 STR loci reveals genetic characteristic of eastern Chinese Han population[J]. Forensic Sci Int Genet, 2015,14: 108-109.

[16] Zhang M X, Han S Y, Gao H M, et al. Genetic Polymorphisms of 19 STR Loci in Shandong Han Population[J]. J Forensic Med, 2013,29(6): 440-443, 446.

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[18] 國務(wù)院人口普查辦公室, 國家統(tǒng)計(jì)局人口和就業(yè)統(tǒng)計(jì)司. 中國2010年人口普查資料[EB/OL]. (2012 )[2016.5.31]. http://www.stats.gov.cn/tjsj/pcsj/rkpc/6rp/indexch.htm.

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[收稿2016-06-13;修回2016-09-01]

(編輯:王福軍)

Study of genetic polymorphism of 19 STR loci in Xinjiang Uyghur population

ChenPengyu1,WangBin2,HanYanyan3,XieChengming1,YuJian1

(1. Department of Forensic Judicial Authentication Center, Affiliated Hospital of Zunyi Medical University, Zunyi Guizhou 563099, China; 2. Institute of Forensic Science, Tianjin Public Security Bureau, Tianjin 300384, China;3. Department of Nutrition and Food Hygiene, School of Public Health, Zunyi Medical University, Zunyi Guizhou 563099, China)

Objective To study the genetic polymorphism of 19 short tandem repeats (STR) loci in Xinjiang Uyghur population, evaluate the application value in forensic identification and kinship testing, and analyze the population genetic relationship with previously published population data. Methods 101 unrelated Uyghur individuals from Xinjiang were screened, amplification of 19 STR loci were performed using the GoldeneyeTM20A multiple STR kits. PCR products were separated by ABI 3130XL sequencer and genotyped with GeneMapper v3.2 software. Allele frequencies and forensic parameters were calculated with diverse software. To analyze genetic relationship with other 17 previously reported population data, genetic distance between populations were calculated and phylogenetic tree was also constructed. Results At all 19 STR loci, no significant deviation from Hardy-Weinberg equilibrium (HWE) were observed (P> 0.05), and no significant deviations from LD between pairwise STR loci were found. The combined power of discrimination (CPD) and the combined power of exclusion (CPE) was 0.99999999999999999999993 and 0.999999997481278, separately. Two main clusters existed within the 18 populations. The first main cluster consisted of Uyghur and Kazakh populations in Xinjiang. The second main cluster included 14 Han groups from different regions of China, Yunnan Bai and Liaoning Hui populations. Conclusion The 19 STR multiple system afford high genetic polymorphism and discrimination power in Xinjiang Uyghur population, and has important significance in forensic identification, paternity testing, and population genetic study.

short tandem repeats; genetic polymorphism; Xinjiang Uyghur; population genetics

遵義醫(yī)學(xué)院博士啟動(dòng)基金資助項(xiàng)目(NO:院字[2015]01)。

余艦,男,教授,碩士生導(dǎo)師,研究方向:法醫(yī)學(xué),E-mail:783065265@qq.com。

DF795.2

A

1000-2715(2016)04-491-06

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