Gibbon Victoria, Paximadis Maria, Strkalj Goran, Ruff Paul, Penny Clem
Department of Internal Medicine, University of the Witwatersrand, 7 York Rd, Johannesburg, 2193 Parktown, South Africa.
Forensic Sci Int Genet. 2009 Mar;3(2):74-9. doi: 10.1016/j.fsigen.2008.10.007. Epub 2008 Dec 13.
Sex identification from skeletal material is of vital importance in order to reconstruct the demographic variables of an individual in forensic genetics and ancient DNA (aDNA) analysis. When the use of conventional methods of sex identification are impossible, molecular analysis of the X and Y chromosomes provides an expedient solution. Two novel systems of molecular sex identification suitable for skeletal material using the amelogenin gene are described, beginning in intron 2-3, spanning exon 3 and ending in intron 3-4. This area was optimal for sexing, as it includes 14 sex-specific polymorphic regions in addition to an indel (insertion or deletion of nucleotides). Once optimised and working with 100% efficiency on the controls, these procedures were applied to a collection of miscellaneous archaeological skeletons (ex situ) sourced from the Raymond Dart Collection of Human Skeletons (Dart Collection). This collection was used to optimise these techniques for skeletal remains derived from an archaeological context. These methods produced 46.66% sex results for the ex situ sample, which is within the normal range for aDNA studies. These new techniques are optimal for sex identification, with both the inherent control of isolating many sex-specific features and combined with the use of sensitive micro-fluidic electrophoresis.
在法医遗传学和古DNA（aDNA）分析中，为了重建个体的人口统计学变量，从骨骼材料中进行性别鉴定至关重要。当无法使用传统的性别鉴定方法时，对X和Y染色体进行分子分析提供了一种便捷的解决方案。本文描述了两种适用于使用牙釉蛋白基因的骨骼材料的新型分子性别鉴定系统，起始于内含子2 - 3，跨越外显子3并终止于内含子3 - 4。该区域是进行性别鉴定的最佳区域，因为除了一个插入缺失（核苷酸的插入或缺失）外，它还包含14个性别特异性多态性区域。一旦在对照样本上优化并达到100%的效率，这些程序就被应用于一批来自雷蒙德·达特人类骨骼收藏（达特收藏）的混杂考古骨骼（异地）。该收藏用于优化这些针对考古背景下骨骼遗骸的技术。这些方法对异地样本产生了46.66%的性别鉴定结果，这在aDNA研究的正常范围内。这些新技术对于性别鉴定是最优的，既固有地控制了分离许多性别特异性特征，又结合了使用灵敏的微流控电泳技术。
