Magaña María Teresa, Perea F Javier, González Juan Ramón, Ibarra Bertha
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Sierra Mojada No. 800, Guadalajara, Jalisco, México.
Blood Cells Mol Dis. 2007 Sep-Oct;39(2):169-77. doi: 10.1016/j.bcmd.2007.03.004. Epub 2007 May 9.
We analyzed 112 beta(A) chromosomes from the Costa Chica region, with the aim of determining the 3' haplotype (3'Hp) in Afromestizo individuals and its relationship with the reported populations. Thirty polymorphic sites were identified by sequencing and two by restriction fragment length polymorphisms. Genetic variability, genetic distances and neutrality tests were performed with the computer program Arlequin 3.0. Three groups were constructed, which we named 3 kb-Hp, 330 bp-Hp and 2.67 kb-Hp with 32, 15 and 17 polymorphic sites respectively. In 3 kb-Hp, 34 different 3' haplotypes (14 of them new) were found; the three most common were 7B1 (17.8%), 7A1 (17.0%) and 1C1 (14.3%). 330 bp-Hp revealed 18 different allelic sequences; the most frequent were the 1 (AT(9)T(5), 22.3%), 2 (AT(8)T(5), 20.5%) and 3 (AT(7)T(7), 20.5%). 2.67 kb-Hp displayed 14 distinct haplotypes, with B1 (30.3%), A1 (28.6%) and C1 (21.4%) having the highest frequencies. The gene diversity of the Costa Chica population was only significantly different to Gambia. In the genetic distances, the p values were not significant for Vanuatu, Sumatra and Central African Republic. The neutrality tests showed that the patterns of diversity in the Costa Chica population deviate significantly from the expectations of the standard neutral model. This is the first work performed in Mexico in which the extended 3'Hp was analyzed in beta(A) chromosomes. The study showed clearly the presence of African and Asian genes in the Costa Chica population.
我们分析了来自科斯塔奇卡地区的112条β(A)染色体，目的是确定阿非混血个体中的3'单倍型(3'Hp)及其与已报道人群的关系。通过测序鉴定出30个多态性位点，通过限制性片段长度多态性鉴定出2个。使用计算机程序Arlequin 3.0进行遗传变异性、遗传距离和中性检验。构建了三组，我们分别命名为3 kb-Hp、330 bp-Hp和2.67 kb-Hp，分别有32、15和17个多态性位点。在3 kb-Hp中，发现了34种不同的3'单倍型(其中14种是新的)；最常见的三种是7B1(17.8%)、7A1(17.0%)和1C1(14.3%)。330 bp-Hp显示出18种不同的等位基因序列；最常见的是1(AT(9)T(5)，22.3%)、2(AT(8)T(5)，20.5%)和3(AT(7)T(7)，20.5%)。2.67 kb-Hp显示出14种不同的单倍型，B1(30.3%)、A1(28.6%)和C1(21.4%)的频率最高。科斯塔奇卡人群的基因多样性仅与冈比亚有显著差异。在遗传距离方面，瓦努阿图、苏门答腊和中非共和国的p值不显著。中性检验表明，科斯塔奇卡人群的多样性模式明显偏离标准中性模型的预期。这是在墨西哥进行的第一项研究，其中在β(A)染色体中分析了扩展的3'Hp。该研究清楚地表明科斯塔奇卡人群中存在非洲和亚洲基因。
