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[波兰南部人群中调查者阿格斯X-12复合体系DXS10074、DXS10079、DXS10146和DXS10148位点罕见基因变异的鉴定]

[Identification of rare genetic variants at DXS10074, DXS10079, DXS10146 and DXS10148 loci of investigator argus X-12 multiplex in the south Polish population].

作者信息

Czarnogórska Marta, Sanak Marek, Piniewska Danuta, Polańska Nina, Stawowiak Agnieszka, Opolska-Bogusz Barbara

机构信息

Z Katedry i Zakładu Medycyny Sadowej UJ CM.

出版信息

Arch Med Sadowej Kryminol. 2010 Oct-Dec;60(4):235-42.

Abstract

In recent years, the analysis of X-linked short tandem repeats (X-STR), beside autosomal and Y-chromosomal STR loci, has become widely used in forensic genetic investigations. The usefulness of X-STRs markers in forensic medicine is confirmed by their high biostatistical parameters obtained for different populations. Such population studies performed on particular ethnic groups allow for demonstrating the presence of, rare genetic variants that are not included in the allelic ladders of commercially available multiplex kits. The presence of these alleles can increase the power of evidence. On the other hand, the off-ladder alleles can be sometimes difficult to interpret. In this paper, X-STRs analysis was performed in a population sample of 200 unrelated females and males from the Southern Poland using Investigator Argus X-12 Kit. Seven rare off-ladder alleles were encountered: DXS1007415.2, DXS1007924, DXS1014638.2, DXS1014647.2, DXS1014817, DXS1014821.1 and DXS10148*22 that were not previously reported in the Polish population. Additionally, genetic transmission of these genetic variants was ascertained.

摘要

近年来,除常染色体和Y染色体短串联重复序列(STR)位点外,X连锁短串联重复序列(X-STR)分析在法医遗传学调查中已得到广泛应用。X-STR标记在法医学中的实用性已通过针对不同人群获得的高生物统计学参数得到证实。对特定种族群体进行的此类群体研究能够证明存在未包含在市售多重试剂盒等位基因阶梯中的罕见遗传变异。这些等位基因的存在可增强证据效力。另一方面,阶梯外等位基因有时可能难以解释。本文使用Investigator Argus X-12试剂盒,对来自波兰南部的200名无关女性和男性群体样本进行了X-STR分析。共发现7个罕见的阶梯外等位基因:DXS1007415.2、DXS1007924、DXS1014638.2、DXS1014647.2、DXS1014817、DXS1014821.1和DXS10148*22,此前在波兰人群中未见报道。此外,还确定了这些遗传变异的遗传传递情况。

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