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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Allelic prevalence of intron 3 insertion/deletion genetic polymorphism of DNA double-strand break repair gene XRCC4 in four healthy Iranian populations
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Allelic prevalence of intron 3 insertion/deletion genetic polymorphism of DNA double-strand break repair gene XRCC4 in four healthy Iranian populations

机译：四个健康伊朗人群中DNA双链断裂修复基因 XRCC4 的内含子3插入/缺失遗传多态性等位基因患病率

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Background and purpose The X-ray cross-complementing group 4 ( XRCC4 ; OMIM: 194363 ), plays an important role in repair of DNA double-strand breaks via non-homologous end joining pathway. In order to find the allelic prevalence of an insertion/deletion polymorphism in intron 3 of XRCC4 (Ins/Del; rs28360071) among Iranian populations, the present study was carried out. Subjects and methods The total study subjects consisted of 662, 200, 291, and 200 individuals from Shiraz (Fars province; belong to Persians), Abarku (Yazd province; belong to Persians), Tabriz (East Azerbaijan province; belong to Azaris), and Yasuj (Kohgiluyeh va Boyer-Ahmad province; belong to Lurs), respectively. Genotypic analysis of the Ins/Del XRCC4 polymorphism was detected by the PCR method. Results The prevalence of the Del allele in Shiraz, Abarku, Tabriz, and Yasuj was estimated 44.4%, 37.3%, 53.6% and 45.0%, respectively. Tabriz (Azaris) showed the significant difference with other populations ( χ 2 =20.06, df=1, P <0.001). Also there was a significant difference between Persians of Shiraz and Abarku ( χ 2 =6.43, df=1, P =0.011). Conclusion Although there is a significant heterogeneity between Iranian populations, the Del allele shows high prevalence among Iranian populations, which is much higher than the allelic prevalence among Asians.
机译：背景与目的X射线交叉互补基团4（XRCC4; OMIM：194363）在通过非同源末端连接途径修复DNA双链断裂中起着重要作用。为了发现伊朗人群中XRCC4内含子3（Ins / Del; rs28360071）的插入/缺失多态性等位基因患病率，进行了本研究。受试者和方法研究的总受试者包括来自设拉子（Fars省;波斯人），阿巴库（亚兹德省;波斯人），大不里士（东阿塞拜疆省;属于Azaris）的662、200、291和200个人，和Yasuj（Kohgiluyeh va Boyer-Ahmad省;属于Lurs）。通过PCR方法检测了Ins / Del XRCC4多态性的基因型分析。结果在设拉子，阿巴库，大不里士和Yasuj的Del等位基因患病率分别为44.4％，37.3％，53.6％和45.0％。大不里士（Azaris）与其他人群显示出显着差异（χ2 = 20.06，df = 1，P <0.001）。设拉子和阿巴库的波斯人之间也有显着差异（χ2 = 6.43，df = 1，P = 0.011）。结论尽管伊朗人群之间存在显着的异质性，但Del等位基因显示伊朗人群中的高患病率，远高于亚洲人中的等位基因患病率。

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