Heidari Somayeh, Hojati Zohreh, Motovali-Bashi Majid
Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.
Int J Fertil Steril. 2017 Jan-Mar;10(4):390-394. doi: 10.22074/ijfs.2016.4593. Epub 2016 Nov 1.
The genetic association between cystic fibrosis transmembrane conductance regulator () gene mutations and male infertility due to congenital bilateral absence of vas deferens (CBAVD) is well established. Mutant , however may also be involved in the etiology of male infertility in non-CBAVD cases. The present study was conducted to estimate the frequency of ∆I507 and ∆F508 gene mutations in Iranian infertile males. We undertook the first study of association between these mutations and non-obstructive azoospermia in Iran. In this case-control study, 100 fertile healthy fathers and 100 non-obstructive azoospermia's men were recruited from Isfahan Infertility Center (IIC) and Sari Saint Mary's Infertility Center, between 2008 and 2009. Screening of F508del and I507del mutations was carried out by the multiplex-ARMS-PCR. Significance of differences in mutation frequencies between the patient and control groups was assessed by Fisher's exact test. The ΔF508 was detected in three patients. However there are no significant association was found between the presence of this mutated allele and infertility [OR=9.2 (allele-based) and 7.2 (individual-based), P=0.179]. None of the samples carried the ΔI507 mutation. Altogether, we show that neither ΔI507 nor ΔF508 is involved in this population of Iranian infertile males with non-obstructive azoospermia.
囊性纤维化跨膜传导调节因子（）基因突变与先天性双侧输精管缺如（CBAVD）所致男性不育之间的遗传关联已得到充分证实。然而，突变型 也可能参与非CBAVD病例中男性不育的病因。本研究旨在估计伊朗不育男性中∆I507和∆F508 基因突变的频率。我们在伊朗首次开展了这些 基因突变与非梗阻性无精子症之间的关联研究。在这项病例对照研究中，2008年至2009年间从伊斯法罕不孕不育中心（IIC）和萨里圣玛丽不孕不育中心招募了100名生育能力正常的健康父亲和100名非梗阻性无精子症男性。通过多重扩增不应性突变系统聚合酶链反应（multiplex-ARMS-PCR）对F508del和I507del突变进行筛查。采用Fisher精确检验评估患者组和对照组之间突变频率差异的显著性。在三名患者中检测到ΔF508。然而，未发现该突变等位基因的存在与不育之间存在显著关联[基于等位基因的比值比（OR）=9.2，基于个体的OR=7.2，P=0.179]。所有样本均未携带ΔI507突变。总之，我们表明，在这群患有非梗阻性无精子症的伊朗不育男性中，ΔI507和ΔF508均未起作用。
