Nakamura Yasutaka, Samejima Michinaga, Tamaki Keiji, Minaguchi Kiyoshi
Department of Forensic Odontology, Tokyo Dental College, 1-2-2 Masago, Mihama-ku, Chiba City 261-0011, Japan.
Leg Med (Tokyo). 2013 May;15(3):164-70. doi: 10.1016/j.legalmed.2012.10.006. Epub 2012 Dec 6.
X-chromosomal STR (X-STR) polymorphisms are particularly useful in complex cases of kinship testing involving inheritance through female subjects. An X-chromosomal multiplex amplifying 18 STRs in one single PCR reaction was developed and optimized in this study. The multiplex system included the DXS7424, GATA172D05, HPRTB, DXS8377, GATA31E08, DXS6810, DXS7423, DXS981, DXS6795, DXS6803, DXS6789, DXS6800, DXS6809, DXS7133, DXS7132, DXS9902, DXS101 and DXS6807 loci, which are distributed over the whole X-chromosome. It was designed as a potential first option in determining recombination within the whole X chromosome in kinship testing. Allele frequencies were obtained from samples from 378 male and 175 female Japanese individuals, all unrelated. The sizes of the amplified products ranged from 82 to 297 bp. The combined power of discrimination of the 18 loci was 0.999999999999997 in females and 0.9999999992 in males. A case is presented in which this system allowed considerable efficacy in reaching a solution. The present multiplex system amplified the largest number of loci among the X-STR multiplex systems tested, indicating its potential in personal identification and determining kinship.
X染色体短串联重复序列（X-STR）多态性在涉及通过女性受试者遗传的复杂亲缘关系检测案例中特别有用。在本研究中，开发并优化了一种在单个PCR反应中扩增18个STR的X染色体多重扩增体系。该多重体系包括DXS7424、GATA172D05、HPRTB、DXS8377、GATA31E08、DXS6810、DXS7423、DXS981、DXS6795、DXS6803、DXS6789、DXS6800、DXS6809、DXS7133、DXS7132、DXS9902、DXS101和DXS6807基因座，它们分布在整个X染色体上。它被设计为亲缘关系检测中确定整个X染色体内重组的潜在首选方法。等位基因频率来自378名日本男性和175名日本女性的样本，所有样本均无亲缘关系。扩增产物的大小范围为82至297 bp。18个基因座的联合鉴别力在女性中为0.999999999999997，在男性中为0.9999999992。本文展示了一个案例，该体系在得出解决方案方面具有相当高的效率。在测试的X-STR多重体系中，目前的多重体系扩增的基因座数量最多，表明其在个人识别和确定亲缘关系方面的潜力。
