Dayangaç Didem, Erdem Hayat, Yilmaz Engin, Sahin Ahmet, Sohn Christof, Ozgüç Meral, Dörk Thilo
Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Hum Reprod. 2004 May;19(5):1094-100. doi: 10.1093/humrep/deh223. Epub 2004 Apr 7.
Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown.
We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe University, Ankara, for the presence of CFTR gene mutations by direct sequencing of the coding region and exon/intron boundaries.
We identified 27 different mutations on 72.5% of the investigated alleles. Two-thirds of the patients harboured CFTR gene mutations on both chromosomes. Two predominant mutations, IVS8-5T and D1152H, accounted for more than one-third of the alleles. Five mutations are described for the first time. With one exception, all identified patients harboured at least one mutation of the missense or splicing type. Presently available mutation panels would have uncovered only 7-12% of CFTR alleles in this population cohort.
Although cystic fibrosis is relatively rare in Turkey, CFTR mutations are responsible for the majority of CBAVD in Turkish males. Because of a specific mutation profile, a population-specific panel should be recommended for targeted populations such as CBAVD in Turkey or elsewhere.
囊性纤维化跨膜传导调节因子（CFTR）突变可导致先天性双侧输精管缺如（CBAVD），这是囊性纤维化的一种主要的生殖器表现形式。土耳其患有CBAVD的男性中CFTR突变的谱型和频率很大程度上尚不清楚。
我们对在安卡拉的哈杰泰佩大学被诊断为CBAVD的51名土耳其男性进行了研究，通过对编码区和外显子/内含子边界进行直接测序来检测CFTR基因突变的存在情况。
我们在72.5%的被检测等位基因上鉴定出27种不同的突变。三分之二的患者两条染色体上都携带CFTR基因突变。两个主要突变，IVS8-5T和D1152H，占等位基因的三分之一以上。有五种突变是首次被描述。除了一例例外，所有已鉴定的患者都至少携带一种错义或剪接类型的突变。目前可用的突变检测板只能发现该人群队列中7%-12%的CFTR等位基因。
尽管囊性纤维化在土耳其相对罕见，但CFTR突变是土耳其男性中大多数CBAVD的病因。由于特定的突变谱型，对于土耳其或其他地方的CBAVD等目标人群，应推荐使用针对特定人群的检测板。
