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

机译:STR DXS7424的验证以及X染色体上的连接情况。

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摘要

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.
机译:X链接的微卫星标记物已被证明是进行亲子鉴定的有力工具,主要用于有争议的孩子是女性的父子关系不佳的情况下。然而,迄今为止,只有少量的X连锁短串联重复序列(STR)被广泛用于法医学应用。我们提供了三核苷酸DXS7424 STR(GDB-G00-577-633)的序列和群体遗传数据。重复多态性代表12个等位基因,长度为147-180 bp。 DXS7424位于Xq22,与DXS101紧密相连,对应于Xp-tel的104.9-121 cM的遗传定位.PCR片段长度的测量和测序使用自动基因分析仪ABI 310(Applied Biosystems)进行。检查此STR的764位无关德国人表现出以下特征:多态信息含量(PIC)= 0.780;杂合度(Het)= 0.843;平均排斥机率(MEC = 0.766。亲缘关系测试显示出典型的X连锁遗传。在300个接受调查的基因中,未发现突变。与Hardy-Weinberg平衡(HWE)的显着偏离未发现。 DXS101。另外,我们发现DXS7424与DXS101之间存在连锁不平衡,这要求在亲缘关系测试中使用已建立的单倍型频率。

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