Akbas Halit, Balkan Mahmut, Binici Mahir, Gedik Abdullah
Department of Medical Biology and Genetics, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
Urol J. 2019 Aug 18;16(4):380-385. doi: 10.22037/uj.v0i0.4435.
X-ray repair cross-complementing group 1 (XRCC1) plays a role in repairing DNA damage during spermatogenesis. We examined the effects the possible role of two single nucleotide polymorphisms of XRCC1 Arg194Trp and Arg399Gln in DNA repair gene XRCC1 with risk of idiopathic non-obstructive azoospermia (INOA) in a south-east Turkey population.
The genotype and allele frequencies of two observed polymorphisms of XRCC1 Arg194Trp and Arg399Gln were examined by polymerase chain reaction-restriction fragment length polymorphism in 102 infertile men with INOA and 102 fertile controls.
In our study, all the observed genotype frequencies are in agreement with Hardy-Weinberg equilibrium. The genotype frequencies of the XRCC Arg194Trp were 84% (CC), 16% (CT) and 2% (TT) among the men with INOA, while the frequencies of those genotypes in the controls were found to be 88% (CC), 12% (CT) and 2% (TT) (?2 test: P < .05). Similarly, the genotypes frequencies of GG, GA, and AA of the XRCC1 Arg399Gln were 44%, 39%, and 19% in the group of men with INOA, whereas these frequencies were 42%, 45%, and 15% in the control group, respectively. No significant difference between the control group and the men with INOA were found in the frequencies of genotypes and allele of XRCC1 Arg194Trp and Arg399Gln (P > 0.05).
Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC1 gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility.
X射线修复交叉互补基因1（XRCC1）在精子发生过程中参与DNA损伤修复。我们研究了DNA修复基因XRCC1的两个单核苷酸多态性，即精氨酸194色氨酸（Arg194Trp）和精氨酸399谷氨酰胺（Arg399Gln）与土耳其东南部人群特发性非梗阻性无精子症（INOA）风险之间可能存在的关系及其影响。
采用聚合酶链反应-限制性片段长度多态性方法，检测了102例INOA不育男性和102例生育力正常对照者中XRCC1基因的精氨酸194色氨酸（Arg194Trp）和精氨酸399谷氨酰胺（Arg399Gln）这两个多态性位点的基因型和等位基因频率。
在我们的研究中，所有观察到的基因型频率均符合哈迪-温伯格平衡。INOA男性中XRCC精氨酸194色氨酸（Arg194Trp）的基因型频率分别为84%（CC）、16%（CT）和2%（TT），而对照组中这些基因型的频率分别为88%（CC）、12%（CT）和2%（卡方检验：P < 0.05）。同样，XRCC1精氨酸399谷氨酰胺（Arg）399Gln的GG、GA和AA基因型频率在INOA男性组中分别为44%、39%和19%，而在对照组中分别为42%、45%和15%。XRCC1精氨酸194色氨酸（Arg194Trp）和精氨酸399谷氨酰胺（Arg399Gln）的基因型和等位基因频率在对照组和INOA男性之间未发现显著差异（P > 0.05）。
在我们的研究中，XRCC1基因中的精氨酸194色氨酸（Arg194Trp）和精氨酸399谷氨酰胺（Arg399Gln）多态性均未影响INOA的发病风险。然而，这些发现可能有助于加深对男性不育病因的理解。
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