Ordoñez-Razo Rosa María, Canizales-Quinteros Samuel, Rodríguez-Cruz Maricela, Peñaloza Rosenda, Minauro-Sanmiguel Fernando, Canto-Cetina Thelma, Canto Patricia, Coral-Vázquez Ramón, Salamanca-Gómez Fabio
Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Genet Test Mol Biomarkers. 2010 Apr;14(2):237-40. doi: 10.1089/gtmb.2009.0147.
Mutations on the delta-sarcoglycan gene have been associated with the development of both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. Recently, the polymorphism c.-94C>G was associated with HCM in Japanese patients. The aim of our study was to evaluate the frequency of c.-94C>G polymorphism in Mexican-Amerindian and Mexican-Mestizo populations. We analyzed the frequency of this polymorphism in 165 Mexican-Amerindian individuals (23 Triquis, 25 Zapotecos, 24 Mayas, 41 Nahuas, and 52 Mixtecos) and 100 unrelated Mexican-Mestizos. Allele frequencies were similar in all Amerindian groups (0.33 Triquis, 0.54 Zapotecos, 0.54 Mayas, 0.46 Nahuas, and 0.49 Mixtecos). When compared with Mexican-Mestizos, only Triquis were different (p = 0.00742). However, when comparing the total sample of the Amerindian population with the Mestizos, the difference was not significant (p = 0.12225). Allele frequencies of Mexican populations were higher than in Asians and less than African and European populations (p < 0.05). These data show that the distribution of the C allele is higher in Mexican populations studied and consequently it is necessary to define if this may be associated with genetic susceptibility for HCM in the Mexican patients.
δ-肌聚糖基因的突变与肥厚型心肌病(HCM)和扩张型心肌病的发生均有关联。最近,多态性位点c.-94C>G与日本患者的HCM相关。我们研究的目的是评估墨西哥美洲印第安人和墨西哥梅斯蒂索人群中c.-94C>G多态性的频率。我们分析了165名墨西哥美洲印第安人个体(23名特里基人、25名萨波特克人、24名玛雅人、41名纳瓦人以及52名米斯特克人)和100名无关的墨西哥梅斯蒂索人中该多态性的频率。所有美洲印第安人群体中的等位基因频率相似(特里基人0.33、萨波特克人0.54、玛雅人0.54、纳瓦人0.46以及米斯特克人0.49)。与墨西哥梅斯蒂索人相比,只有特里基人存在差异(p = 0.00742)。然而,当将美洲印第安人群体的总样本与梅斯蒂索人进行比较时,差异并不显著(p = 0.12225)。墨西哥人群的等位基因频率高于亚洲人,低于非洲人和欧洲人(p < 0.05)。这些数据表明,在所研究的墨西哥人群中C等位基因的分布更高,因此有必要确定这是否可能与墨西哥患者患HCM的遗传易感性相关。