Saldaña-Alvarez Yolanda, Jiménez-Morales Silvia, Echevarría-Sánchez Mirna, Jiménez-Ruíz Juan Luis, García-Cavazos Ricardo, Velázquez-Cruz Rafael, Carnevale Alessandra, Orozco Lorena
Genomic of Complex Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, Mexico City, Mexico.
Genet Test Mol Biomarkers. 2012 Apr;16(4):292-6. doi: 10.1089/gtmb.2011.0124. Epub 2011 Nov 21.
In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases. However, the involvement of these mutations in infertility of Mexican males has not been elucidated.
We investigated whether CFTR mutations and IVS8-Tn(TG)m polymorphisms are associated with infertility in azoospermic Mexican patients.
Sixteen CBAVD and 33 idiopathic azoospermic cases were included. The CFTR gene was sequenced in all CBAVD cases. In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened.
The p.F508del, p.G85E, p.D1152H, and p.W1089X mutations were found in 3 CBAVD patients (18.8%). None of the 9 CFTR mutations screened for in idiopathic azoospermic were found; however, we documented a high frequency of the Gln1463Gln polymorphism in comparison with healthy controls (20% vs 6%; p=0.0029).
These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. Nevertheless, other screening strategies should be used to rule out the implication of CFTR mutations in idiopathic azoospermic disease.
在多个群体中，囊性纤维化跨膜传导调节因子（CFTR）突变以及IVS8-Tn CFTR多态性与先天性双侧输精管缺如（CBAVD）和特发性梗阻性无精子症有关。然而，这些突变在墨西哥男性不育症中的作用尚未阐明。
我们调查了CFTR突变和IVS8-Tn（TG）m多态性是否与墨西哥无精子症患者的不育症有关。
纳入16例CBAVD患者和33例特发性无精子症患者。对所有CBAVD患者的CFTR基因进行测序。在特发性无精子症患者中，筛查p.F508del、p.G542X、p.N1303K、p.S549N、p.I507del和p.R117H突变以及在我们的CBAVD病例中检测到的突变。
在3例CBAVD患者（18.8%）中发现了p.F508del、p.G85E、p.D1152H和p.W1089X突变。在特发性无精子症患者中筛查的9种CFTR突变均未发现；然而，与健康对照相比，我们记录到Gln1463Gln多态性的频率较高（20%对6%；p=0.0029）。
这些数据表明，CFTR突变而非IVS8-Tn多态性参与了墨西哥人群CBAVD的病因。然而，应该使用其他筛查策略来排除CFTR突变在特发性无精子症疾病中的影响。
