Larriba S, Bassas L, Gimenez J, Ramos M D, Segura A, Nunes V, Estivill X, Casals T
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, l'Hospitalet de Llobregat, 08907 Barcelona, Spain.
Hum Mol Genet. 1998 Oct;7(11):1739-43. doi: 10.1093/hmg/7.11.1739.
The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results in a wild-type transcript and one without exon 9. Little is known about expression of the CFTR gene in the testis. We analysed the level of the aberrantly spliced transcripts in testicular biopsies and correlated it with disease expression. Quantitative RT-PCR analysis in testicular biopsies from control and CBAVD patients showed a correlation between the length of the IVS8-6(T) n tract and the level of alternatively spliced transcripts. Results from histological analysis also suggest an involvement of the alternative transcript in the spermatogenic status of patients, leading to a decreased number of mature sperm forms in the tubule.
囊性纤维化跨膜调节因子（CFTR）基因第8内含子中的五个胸苷（5T）变异体与先天性双侧输精管缺如（CBAVD）表型的关联已得到广泛证实。该变异体导致CFTR基因的可变剪接，产生一个野生型转录本和一个缺失外显子9的转录本。关于CFTR基因在睾丸中的表达知之甚少。我们分析了睾丸活检中异常剪接转录本的水平，并将其与疾病表达相关联。对对照组和CBAVD患者睾丸活检组织进行的定量RT-PCR分析表明，IVS8-6（T）n序列的长度与可变剪接转录本的水平之间存在相关性。组织学分析结果还表明，可变转录本与患者的生精状态有关，导致小管中成熟精子形态数量减少。
