Pico Adriana, Castillo Adriana, Vargas Clara, Amorim António, Gusmão Leonor
Genetic Laboratory, UIS-Industrial University of Santander, Carrera 32, No. 29-31 Bucaramanga, Colombia.
Int J Legal Med. 2008 Jul;122(4):347-51. doi: 10.1007/s00414-007-0215-1. Epub 2008 Mar 8.
Ten X-chromosome short tandem repeats (X-STRs: DXS8378, DXS7132, DXS9898, DXS6809, DXS6789, DXS101, GATA172D05, HPRTB, DXS8377, and DXS7423) were analyzed in a sample of unrelated individuals (108 males and 110 females) from the Santander Department in Colombia. In this sample, gene diversities varied between 63.56%, for DXS8378, and 91.41%, for DXS8377. For this set of 10 X-STRs, a high discrimination power was obtained for both male (1 in 3 x 10(6)) and female (1 in 9 x 10(10)) samples and a high mean exclusion chance in father/daughter duos (99.993%) and in father/mother/daughter trios (99.9999%), demonstrating the usefulness of this set of markers in forensic and kinship analysis. Hardy-Weinberg equilibrium was tested in the female sample and no significant deviations were found. Pairwise analysis showed significant differences in the comparison with samples from Spain, Peru, and Argentina and with African American and Hispanic samples from New York. This same set of X-STRs was also typed in 51 mother/father/daughter trios, 43 mother/son duos, and in a single father/daughter pair. In total, four mutations were observed; one at DXS7132 and at DXS6809, and two at DXS8377. Two mutations were paternal and one maternal; and to a fourth mutation, it was not possible to define its origin.
在来自哥伦比亚桑坦德省的一组无关个体样本(108名男性和110名女性)中,对10个X染色体短串联重复序列(X-STRs:DXS8378、DXS7132、DXS9898、DXS6809、DXS6789、DXS101、GATA172D05、HPRTB、DXS8377和DXS7423)进行了分析。在该样本中,基因多样性在DXS8378的63.56%至DXS8377的91.41%之间变化。对于这组10个X-STRs,男性样本(1/3×10⁶)和女性样本(1/9×10¹⁰)均获得了较高的鉴别力,并且在父女二人组(99.993%)和父母女三人组(99.9999%)中具有较高的平均排除率,证明了这组标记物在法医和亲属关系分析中的实用性。在女性样本中测试了哈迪-温伯格平衡,未发现显著偏差。成对分析显示,与来自西班牙、秘鲁和阿根廷的样本以及来自纽约的非裔美国人和西班牙裔样本相比存在显著差异。这组相同的X-STRs也在51个父母女三人组、43个母子二人组以及一对父女中进行了分型。总共观察到4个突变;一个在DXS7132和DXS6809,两个在DXS8377。两个突变是父系的,一个是母系的;对于第四个突变,无法确定其起源。