摘要目的 探讨先天性双侧输精管缺如患者囊性纤维化跨膜转导因子(CFTR)基因启动子区域的基因突变情况.方法 采用PCR技术结合DNA直接测序的方法检测2013年5月至2015年1月于中山大学附属第三医院诊断明确的11例先天性双侧输精管缺如汉族患者及50名健康已生育汉族男性的CFTR基因5'端ATG上游3.8 kb的启动子区域的突变情况,并在NCBI和Cystic Fibrosis Mutation Database在线比对,利用Transfac在线预测及系统发生足迹法联合已经报道的转录因子作用元件,探讨所检测之碱基变异与启动子调控作用的关系.结果 11例汉族先天性双侧输精管缺如患者中发现c.-8G＞C(1例)、c.-966T＞ G(7例)2个已知CFTR启动子区域的多态性位点及c.-195C＞A(1例)1个单核苷酸位点变异,其中,c.-195C＞A位于物种间启动子保守区域.结论 除外多态性位点,在中国汉族先天性双侧输精管缺如患者CFTR基因启动子区域检测到一个单核苷酸变异,其与疾病发生的关系仍需进一步行生物学实验验证.

abstractsObjective To detect the variants in the promoter region of the CFTR gene in congenital bilateral absence of vas deferens (CBAVD).Methods A total of 11 CBAVD patients and 50 healthy men as control were enrolled in the study from May 2013 to January 2015.Sanger sequencing was performed in the promoter region of 3.8 kb of the CFTR gene on the PCR products.The genome sequence of the CFTR gene was compared and analyzed with the website of NCBI and Cystic Fibrosis Mutation Database.Also,Transfac and phylogenetic footprinting method was used to investigate the relationship between the promoter region variants and the transcription factors function components.Results SNP of c.-8G ＞ C (n =1) and c.-966T ＞ G(n =7),as well as one single nucleotide variant of c.-195C ＞ A (n =1) were identified in the promoter region of the CBAVD patients,of which c.-195C ＞ A was in the conserved domains of the promoter region.Conclusions A single nucleotide variant within the conserved region of CFTR promoter is detected in Chinese CBAVD.And further functional study should be performed to explore the relationship between the variants in CFTR promoter and Chinese CBAVD.