Asadi Fatemeh, Mirfakhraie Reza, Mirzajani Farzaneh, Khedri Azam
Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.
Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran.
Iran Biomed J. 2019 Mar;23(2):92-8. doi: 10.29252/.23.2.92. Epub 2018 Jul 10.
Studies have revealed a strong association between mutations of CFTR gene and the congenital bilateral absence of the vas deferens (CBAVD), but the role of this gene in other types of male infertility is still unclear. The purpose of this study was to investigate the frequency of the most common mutations of the CFTR gene (DF508, G542X, N1303K, G551D, and W1282X) in a population of infertile men with nonobstructive azoospermia (NOA) and CBAVD in Iran.
Blood samples were obtained from 50 NOA, 50 CBAVD, and 100 normal males (control). Genomic DNA was isolated from whole blood leukocytes, and the presence of common mutations of the CFTR gene was assessed by an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Restriction fragment length polymorphism (PCR-RFLP) was also used to analyze IVS8-Tn polymorphism.
It was found that 16%, 8%, and 8% of patients with CBAVD were heterozygote for DF508, G542X, and N1303K, respectively. The frequency of the 5T allele was 34% and higher than the normal group (p < 0.001). None of the common CFTR gene mutations were detected in NOA patients, and no significant difference was found in the distribution of the 5T allele between the NOA patients and the control group (5 vs. 3 p = 0.721).
Based on the present case-control study, the CFTR gene mutations and IVS8-Tn polymorphisms are correlated with CBAVD; however, extensive investigations are necessary to determine the exact relationship between the gene mutations and other forms of male infertility.
研究表明，囊性纤维化跨膜传导调节因子（CFTR）基因突变与先天性双侧输精管缺如（CBAVD）之间存在密切关联，但该基因在其他类型男性不育中的作用仍不清楚。本研究旨在调查伊朗非梗阻性无精子症（NOA）和CBAVD不育男性群体中CFTR基因最常见突变（DF508、G542X、N1303K、G551D和W1282X）的频率。
采集50例NOA患者、50例CBAVD患者和100例正常男性（对照组）的血样。从全血白细胞中分离基因组DNA，采用扩增阻滞突变系统-聚合酶链反应（ARMS-PCR）评估CFTR基因常见突变的存在情况。还使用限制性片段长度多态性（PCR-RFLP）分析IVS8-Tn多态性。
发现CBAVD患者中分别有16%、8%和8%为DF508、G542X和N1303K杂合子。5T等位基因频率为34%，高于正常组（p < 0.001）。在NOA患者中未检测到CFTR基因常见突变，NOA患者与对照组之间5T等位基因分布无显著差异（5%对3%，p = 0.721）。
基于本病例对照研究，CFTR基因突变和IVS8-Tn多态性与CBAVD相关；然而，需要进行广泛研究以确定基因突变与其他形式男性不育的确切关系。
