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Background and purposeThe 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 methodsThe 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.ResultsThe 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 (χ2=20.06, df=1, P<0.001). Also there was a significant difference between Persians of Shiraz and Abarku (χ2=6.43, df=1, P=0.011).ConclusionAlthough 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

the egyptian journal of medical human genetics /the 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