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STR DXS7424的验证及在X染色体上的连锁情况。

Validation of the STR DXS7424 and the linkage situation on the X-chromosome.

作者信息

Edelmann Jeanett, Hering Sandra, Kuhlisch Eberhard, Szibor Reinhard

机构信息

Institut für Rechtsmedizin, Universität Leipzig, Germany.

出版信息

Forensic Sci Int. 2002 Feb 18;125(2-3):217-22. doi: 10.1016/s0379-0738(02)00005-1.

Abstract

X-linked microsatellite markers have proven to be powerful tools for parentage testing, mainly in deficiency paternity cases when the disputed child is female. However, only a small number of X-linked short tandem repeats (STRs) have been comprehensively described for forensic applications to date. We present sequence and population genetic data of the DXS7424 STR (GDB-G00-577-633) which is a trinucleotide repeat polymorphism representing 12 alleles of 147-180 bp in length. DXS7424 is located at Xq22 and closely linked to DXS101, corresponding to a genetic localisation of 104.9-121 cM from Xp-tel.PCR fragment length measurements and sequencing were carried out using the automatic gene analyser ABI 310 (Applied Biosystems). The population of 764 unrelated Germans checked for this STR exhibited the following features: polymorphism information content (PIC) = 0.780; heterozygosity (Het) = 0.843; mean exclusion chance (MEC = 0.766. Kinship tests revealed a typical X-linked inheritance. In 300 meioses under investigation, mutations were not found. Significant deviations from the Hardy-Weinberg equilibrium (HWE) were not established. Linkage studies confirmed closely linkage to DXS101. Additional we found linkage disequilibrium between DXS7424 and DXS101. This requires to use the established haplotype frequencies in kinship testing.

摘要

X连锁微卫星标记已被证明是亲子鉴定的有力工具,主要用于争议孩子为女性的缺父型亲子鉴定案件。然而,迄今为止,仅有少数X连锁短串联重复序列(STR)在法医应用中得到了全面描述。我们展示了DXS7424 STR(GDB - G00 - 577 - 633)的序列和群体遗传学数据,它是一种三核苷酸重复多态性,有12个等位基因,长度为147 - 180 bp。DXS7424位于Xq22,与DXS101紧密连锁,对应于从Xp端粒起104.9 - 121 cM的基因定位。使用自动基因分析仪ABI 310(应用生物系统公司)进行PCR片段长度测量和测序。对764名无关德国人的群体进行该STR检测,结果显示出以下特征:多态性信息含量(PIC)= 0.780;杂合度(Het)= 0.843;平均排除机会(MEC)= 0.766。亲缘关系测试显示出典型的X连锁遗传。在300次被研究的减数分裂中未发现突变。未发现与哈迪 - 温伯格平衡(HWE)有显著偏差。连锁研究证实与DXS101紧密连锁。此外,我们发现DXS7424与DXS101之间存在连锁不平衡。这就要求在亲缘关系测试中使用已确定的单倍型频率。

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