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中国辽宁满族人群 12 个 X-STR 基因座的法医学遗传分析。

Genetic analysis of 12 X-STRs for forensic purposes in Liaoning Manchu population from China.

机构信息

Department of Forensic Genetics, School of Forensic Medicine, China Medical University Shenyang, Liaoning 110122, China.

Department of Forensic Genetics, School of Forensic Medicine, China Medical University Shenyang, Liaoning 110122, China.

出版信息

Gene. 2019 Jan 30;683:153-158. doi: 10.1016/j.gene.2018.10.020. Epub 2018 Oct 13.

Abstract

X-chromosomal short tandem repeats (X-STRs) have been widely used in forensic practice involving complicated cases of kinship and also play an increasingly important role in population genetics. X-STRs have been studied in regional populations of China but there is a lack of data for the Manchu population. In this study, we have investigated the forensic genetic properties of 12 X-STRs in the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany) in 772 Manchu (male = 514, female = 258) individuals from the Xiuyan and Huanren Manchu autonomous counties of Liaoning province. We observed a total of 166 alleles at 12 X-STR loci with allele frequencies ranging from 0.001295to 0.615285. The most polymorphic locus was DXS10135 with 24 alleles while DXS7423 was the least polymorphic locus with 5 alleles. We found significant linkage disequilibrium (LD) between the following pairs of markers for males: DXS10103/DXS10101, DXS10135/DXS10146, DXS10101/DXS10148, DXS10135/DXS10148, DXS7423/DXS10148 and DXS10079/DXS10148. For females, LD was only observed for DXS10103/DXS10101. The combined power of discrimination was 0.9999999979699 for males and 0.999999999999998 for females. The numbers of observed haplotypes in Manchu males were 310, 172, 182 and 172 in four linkage groups; LG1, LG2, LG3 and LG4, respectively, however, these linkage groups did not form stable haplotypes as indicated by linkage equilibrium (LE) of STRs within the groups and significant LD between the groups. This study represents an extensive report on X-STR marker variation in the Manchu population for forensic applications and population genetic studies.

摘要

X 染色体短串联重复序列(X-STRs)在涉及复杂亲属关系的法医学实践中得到了广泛应用,并且在群体遗传学中也发挥着越来越重要的作用。X-STRs 已经在中国的一些地区人群中进行了研究,但满族人群的数据却很缺乏。在本研究中,我们使用 Investigator Argus X-12 试剂盒(QIAGEN,德国黑尔登)对来自辽宁省岫岩县和桓仁县的 772 名满族个体(男性 514 名,女性 258 名)进行了 12 个 X-STR 基因座的法医遗传学特征研究。我们在 12 个 X-STR 基因座共观察到 166 个等位基因,其等位基因频率范围为 0.001295 至 0.615285。最多态性的基因座是 DXS10135,有 24 个等位基因,而最少多态性的基因座是 DXS7423,有 5 个等位基因。我们发现男性群体中以下标记对之间存在显著的连锁不平衡(LD):DXS10103/DXS10101、DXS10135/DXS10146、DXS10101/DXS10148、DXS10135/DXS10148、DXS7423/DXS10148 和 DXS10079/DXS10148。对于女性,仅在 DXS10103/DXS10101 之间观察到 LD。男性的组合判别力为 0.9999999979699,女性的组合判别力为 0.999999999999998。在四个连锁群 LG1、LG2、LG3 和 LG4 中,观察到的满族男性单倍型数分别为 310、172、182 和 172。然而,这些连锁群并没有形成稳定的单倍型,因为群内 STR 的连锁平衡(LE)和群间的显著 LD 表明了这一点。本研究代表了对满族人群 X-STR 标记变异的广泛报道,可为法医学应用和群体遗传学研究提供参考。

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