Gusmão Leonor, Sánchez-Diz Paula, Alves Cíntia, Gomes Iva, Zarrabeitia María Teresa, Abovich Mariel, Atmetlla Ivannia, Bobillo Cecilia, Bravo Luisa, Builes Juan, Cainé Laura, Calvo Raquel, Carvalho Elizeu, Carvalho Mónica, Cicarelli Regina, Catelli Laura, Corach Daniel, Espinoza Marta, García Oscar, Malaghini Marcelo, Martins Joyce, Pinheiro Fátima, João Porto Maria, Raimondi Eduardo, Riancho Jose Antonio, Rodríguez Amelia, Rodríguez Anayanci, Rodríguez Cardozo Belén, Schneider Vicente, Silva Sandra, Tavares Celso, Toscanini Ulises, Vullo Carlos, Whittle Martin, Yurrebaso Iñaki, Carracedo Angel, Amorim António
IPATIMUP Institute of Pathology and Molecular Immunology, University of Porto, Porto, Portugal.
Int J Legal Med. 2009 May;123(3):227-34. doi: 10.1007/s00414-008-0309-4. Epub 2008 Dec 12.
In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.
在西班牙和葡萄牙国际法医遗传学会工作组(GEP - ISFG)开展的一项合作研究中,优化了一种聚合酶链反应多重检测方法,以便在单个反应中对十个X染色体短串联重复序列(STR)进行分型,这些序列包括:DXS8378、DXS9902、DXS7132、DXS9898、DXS6809、DXS6789、DXS7133、GATA172D05、GATA31E08和DXS7423。利用这种X染色体十重检测方法,参与研究的17个实验室各自对一个约200名无关个体(100名男性和100名女性)的群体样本进行了分型。在这项研究中,我们报告了来自阿根廷(布宜诺斯艾利斯、科尔多瓦、内乌肯、恩特雷里奥斯和米西奥内斯)、巴西(圣保罗、里约热内卢、巴拉那和南马托格罗索州)、哥伦比亚(安蒂奥基亚)、哥斯达黎加、葡萄牙(北部和中部地区)以及西班牙(加利西亚和坎塔布里亚)的15个样本中十个X - STR的等位基因频率。计算了每个群体中这十个标记的基因多样性,所有值均高于56%。每个位点的平均多样性在DXS7133的66%和DXS6809的82%之间变化。对于这组STR,在所有群体中,无论男性(>或 = 1/5×10⁵)还是女性(>或 = 1/3×10⁹)都具有较高的鉴别力,在父子/女二人组(>或 = 99.953%)和父母/女三人组(>或 = 99.999%)中也具有较高的平均排除概率。遗传距离分析表明,葡萄牙北部和中部之间或西班牙加利西亚和坎塔布里亚的两个样本之间没有显著差异。在巴西境内,里约热内卢与其他三个群体之间以及圣保罗和巴拉那之间存在显著差异。对于五个阿根廷样本,只有在比较米西奥内斯与恩特雷里奥斯以及与内乌肯时才观察到显著距离,这是仅有的两个与哥斯达黎加没有显著差异的样本。安蒂奥基亚与所有其他样本不同,除了来自内乌肯的样本。