駱繼懷，孫紅兵，楊　鑫，哈　飛，張子龍（.甘肅省證據(jù)科學(xué)技術(shù)研究與應(yīng)用重點(diǎn)實(shí)驗(yàn)室，甘肅 蘭州 730070；2．蘭州市公安局刑事科學(xué)技術(shù)研究所，甘肅 蘭州 730030）

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·研究簡報(bào)·

甘肅東鄉(xiāng)族男性24個(gè)Y-STR基因座遺傳多態(tài)性（英文）

駱繼懷1，2，孫紅兵1，2，楊鑫1，2，哈飛1，2，張子龍1
（1.甘肅省證據(jù)科學(xué)技術(shù)研究與應(yīng)用重點(diǎn)實(shí)驗(yàn)室，甘肅 蘭州 730070；2．蘭州市公安局刑事科學(xué)技術(shù)研究所，甘肅 蘭州 730030）

摘要：目的 檢測24個(gè)Y-STR基因座單倍型的遺傳多態(tài)性，探討其法醫(yī)物證學(xué)應(yīng)用價(jià)值。方法 應(yīng)用AGCU Y24試劑盒和3130xl型遺傳分析儀對154例甘肅東鄉(xiāng)族男性無關(guān)個(gè)體的24個(gè)Y-STR基因座（DYS391、DYS389Ⅰ、DYS439、DYS389Ⅱ、DYS438、DYS643、DYS456、DYS458、DYS437、DYS635、DYS448、DYS527a/b、Y-GATA-H4、DYS447、DYS19、DYS392、DYS522、DYS393、DYS388、DYS390、DYS385a/b、DYS444）進(jìn)行檢測，獲得其基因型分布情況。結(jié)果 154例樣本中共檢出153種單倍型，單倍型多樣性為0.9915和個(gè)體識別率為0.9940。結(jié)論 24個(gè)Y-STR復(fù)合擴(kuò)增體系具有較高單倍型遺傳多態(tài)性和個(gè)體識別率。

關(guān)鍵詞：法醫(yī)遺傳學(xué)；多態(tài)現(xiàn)象，遺傳；Y染色體；短串聯(lián)重復(fù)序列；單倍型；甘肅；東鄉(xiāng)族

Introduction

Autosomal short tandem repeat（STR）are in widespread use in forensic analysis；Y-STR loci are extremely useful for identifying male-specific DNA in sexual assault cases and female/male mixture evidence samples and paternity testing.Most members of Dongxiang ethnic minority live in Gansu Province of northwest China.Population data are not available for the 24 Y-STR loci reported in this region（DYS391，DYS389Ⅰ，DYS439，DYS389Ⅱ，DYS438，DYS643， DYS456， DYS458， DYS437， DYS635，DYS448，DYS527a/b，Y-GATA-H4，DYS447，DYS19，DYS392， DYS522， DYS393， DYS388， DYS390，DYS385a/b and DYS444）.The current study addressed the polymorphism among 24 Dongxiang Y-STR loci，emphasizing the need to obtain population data in this region.

Materials and methods

Blood samples were taken from a total number of 154 unrelated healthy Dongxiang ethnic minority male volunteers，who each offered informed consent.DNA was extracted using the standard 5% Chelex?100 procedure［1］.Y-STR was quantified us-

Author：LUO Ji-huai（1983—），M.D，major in forensic genetics；E-mail:lanzhouDNA110@126.com

Corresponding：SUN Hong-bing，professor，major in forensic genetics；E-mail:sunhb.good@163.coming an AGCU Y24 kit（AGCU ScienTech Inc.，China）according to the manufacturer’s protocol.The PCR products，including positive，negative and blank controls，were separated by capillary electrophoresis using 3130xl Genetic Analyzer（Applied Biosystems）. Each allele call at all STR loci was determined by comparison with an allelic ladder.The Hardy-Weinberg equilibrium was evaluated with the allelic frequencies.The following formulas were used for（1）genetic diversity（GD）［2］:

where Piis the frequency of the ith allele or haplotype and n is the number of individuals，and for（2）discriminatory capacity（DC）:

Results and discussion

Y-STR markers were genotyped from 154 DongxiangethnicminoritymaleresidentsinGansu Province of China，with a total number of 154 different haplotypes of 24 Y-STR identified，of which 153 were unique（Table 1-2）.Lists were made of allele frequencies and estimated values of GD of 24 Y-STR loci（Table 1-2），DYS385a/b being the highest level of diversity（0.963 8）and DYS391 being the least one（0.3076）.A three-banded alleles was found in DYS527a/b，which might be displaced by chromosomes，somatic mutation，triploid and other chromosomal abnormalities or overlap of adjacent locus allele distribution，causing additional primer binding sites and other factors.The level of three peaks could be the same size or different.No deviation （P＞0.05）from Hardy-Weinberg equilibrium was observed in the individuals’24 Y-STR haplotypes. Their estimated haplotype diversity and the capacity of discrimination of the 24 Y-STR loci were 0.991 5 and 0.9940，respectively.

Table 1　Allele frequencies of 24 Y-STR loci in Dongxiang ethnic minority male residents in Gansu Province of China　（n=154）

Continued

Table 2　GD of 24 Y-STR loci in Dongxiang ethnic minority male residents in Gansu Province of China （n=154）

Conclusion

The 24 Y-STR loci can be used for forensic individualidentificationandparentaltestingof Dongxiang ethnic minority male residents in Gansu Province of China.Furthermore，the population data of the Y-24 STR loci studied can be applied to analyzing the genetic background of Dongxiang ethnic minority local people，and also serve as the foundation for the future investigations on the origin of their migration and integration.

Acknowledgement

This research was supported by the Youth Science and Technology Foundation of Gansu Province （1308RJYA059），Technologyresearchprojectsof GansuProvincialPublicSecurity（2016JSYJ01），National Natural Science Foundation（81302622）.

Reference：

［1］Strom GE，Tellevik MG，Hanevik K，et al.Comparison of four methods for extracting DNA from dried blood on filter paper for PCR targeting the mitochondrial Plasmodium genome［J］.Trans R Soc Trop Med Hyg，2014，108（8）:488-494.

［2］Lee EY，Shin KJ，Rakha A，et al.Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan［J］.Forensic Sci Int Genet，2014，11（2）:111-116.

（Received date:2015-06-16）

（Editor:LI Cheng-tao）

中圖分類號：DF795.2

文獻(xiàn)標(biāo)志碼：B

doi：10.3969/j.issn.1004-5619.2016.03.015

文章編號：1004-5619（2016）03-0219-03

Genetic Polymorphism of 24 Y-STR Loci in Dongxiang Ethnic Minority Male Residents in Gansu Province of China

LUO Ji-huai1，2，SUN Hong-bing1，2，YANG Xin1，2，HA Fei1，2，ZHANG Zi-long1
（1.Key Laboratory of Evidence of Science and Technology Research and Application，Gansu Province，Lanzhou 730070，China；2.Institute of Criminal Science and Technology，Lanzhou Public Security Bureau，Lanzhou 730030，China）

Abstract:Objective To determine the genetic polymorphism of 24 Y-STR loci haplotype and investigate its application value in legal physical evidence.Methods AGCU Y24 kit and 3130xl Genetic Analyzer were used to detect the distribution of 24 Y-STR loci including DYS391，DYS389Ⅰ，DYS439，DYS389Ⅱ，DYS438，DYS643，DYS456，DYS458，DYS437，DYS635，DYS448，DYS527a/b，Y-GATA-H4，DYS447，DYS19，DYS392，DYS522，DYS393，DYS388，DYS390，DYS385a/b and DYS444 in 154 unrelated individuals of Dongxiang ethnic minority males in Gansu province of China.Results A total number of 153 haplotypes were detected in 154 samples，the haplotype diversity was 0.9915 and the discrimination power was 0.9940.Conclusion The 24 Y-STR loci system has high haplotype diversity and discrimination power.

Key words:forensic genetics；polymorphism，genetic；Y chromosome；short tandem repeat sequences；haplotype；Gansu；Dongxiang Population