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X染色体短串联重复序列DXS6809的验证

Validation of the X-chromosomal STR DXS6809.

作者信息

Edelmann J, Deichsel D, Plate I, Käser M, Szibor R

机构信息

Institut für Rechtsmedizin, Universität Leipzig, Johannisallee 28, 04103, Leipzig, Germany.

出版信息

Int J Legal Med. 2003 Aug;117(4):241-4. doi: 10.1007/s00414-003-0369-4. Epub 2003 May 14.

Abstract

This paper presents sequence and population genetic data of the microsatellite marker DXS6809 (GDB 365492) obtained from a German population sample ( n=725 chromosomes). DXS6809 is a highly polymorphic X-linked tetranucleotide polymorphism presenting 12 alleles in our population. Sequencing of 77 PCR products covering 12 alleles (by length), characterised DXS6809 as a marker with a complex repeat sequence structure. A polymorphism information content (PIC) of 0.825 and a mean exclusion chance (MEC) of 0.815 were obtained. A deviation from the Hardy-Weinberg equilibrium (HWE) could not be detected and male and female samples exhibited a similar allele distribution. Kinship testing revealed a typical X-linked inheritance and 2 mutations were found in 394 meioses. DXS6809 is located 90.18 Mb, i.e. 102.3 cM, from the Xp-telomere (Xp-tel), corresponding to Xq21.33. The presented data qualify DXS6809 as a useful supplement to the known forensic ChrX marker panel.

摘要

本文展示了从德国人群样本(n = 725条染色体)中获取的微卫星标记DXS6809(GDB 365492)的序列和群体遗传数据。DXS6809是一种高度多态的X连锁四核苷酸多态性,在我们的群体中呈现12个等位基因。对涵盖12个等位基因(按长度)的77个PCR产物进行测序,将DXS6809表征为具有复杂重复序列结构的标记。获得的多态信息含量(PIC)为0.825,平均排除概率(MEC)为0.815。未检测到偏离哈迪-温伯格平衡(HWE)的情况,男性和女性样本表现出相似的等位基因分布。亲缘关系测试显示典型的X连锁遗传,在394次减数分裂中发现了2个突变。DXS6809位于距Xp端粒(Xp-tel)90.18 Mb处,即102.3 cM,对应于Xq21.33。所呈现的数据使DXS6809成为已知法医ChrX标记组的有用补充。

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