Gomes Iva, Prinz Mechthild, Pereira Rui, Meyers Carole, Mikulasovich Rebecca S, Amorim António, Carracedo Angel, Gusmão Leonor
IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
Int J Legal Med. 2007 May;121(3):198-203. doi: 10.1007/s00414-006-0146-2. Epub 2007 Jan 20.
An X-chromosomal multiplex amplifying ten short tandem repeats (STRs) in one single PCR reaction was developed and optimized in this work. The X-STRs included were DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101, and DXS6789. Decaplex performance was tested on 377 male samples from three United States population groups, namely, 130 African Americans, 104 Asians, and 143 Hispanics. DXS8377 was the most polymorphic locus across all three populations, whereas DXS7423 was the least informative marker. Genetic distance analysis (R (ST) and F (ST)) performed for the three populations residing in New York showed significant genetic distances between population groups for most pairwise comparisons, except for HPRTB, DXS6809, and DXS7132. When testing linkage disequilibrium for all pairs of loci in the three groups, no significant association was found between any pair of the loci studied, after applying Bonferroni correction. The high values for the average probability of excluding a random man obtained in all three populations when both mother and daughter are tested or when father/daughter relationships are evaluated support the potential of this decaplex system in kinship analysis. Also, the overall high power of discrimination values for samples of female and male origin, confirms the usefulness of this decaplex system in identification analysis. As expected, results also support the use of independent databases comprising these ten X-linked loci for the three US populations evaluated.
在本研究中，开发并优化了一种在单个聚合酶链式反应（PCR）中多重扩增10个短串联重复序列（STR）的X染色体检测方法。所包含的X染色体STR位点有DXS8378、DXS9898、DXS8377、次黄嘌呤磷酸核糖基转移酶（HPRTB）、GATA172D05、DXS7423、DXS6809、DXS7132、DXS101和DXS6789。在来自美国三个群体的377名男性样本上测试了十重检测性能，这三个群体分别为130名非裔美国人、104名亚洲人和143名西班牙裔。DXS8377是所有三个群体中多态性最高的位点，而DXS7423是信息量最少的标记。对居住在纽约的这三个群体进行的遗传距离分析（R(ST)和F(ST)）显示，除了HPRTB、DXS6809和DXS7132外，大多数两两比较的群体间存在显著的遗传距离。在对这三个群体中所有位点对进行连锁不平衡测试时，应用Bonferroni校正后，所研究的任何一对位点之间均未发现显著关联。当同时检测母亲和女儿或评估父女关系时，在所有三个群体中获得的排除随机男性的平均概率的高值支持了这种十重检测系统在亲缘关系分析中的潜力。此外，女性和男性来源样本的总体高鉴别力值证实了这种十重检测系统在身份鉴定分析中的实用性。正如预期的那样，结果也支持使用包含这十个X连锁位点的独立数据库来评估这三个美国群体。
