Allelic prevalence of intron 3 insertion/deletion genetic polymorphism of DNA double-strand break repair gene XRCC4 in four healthy Iranian populations

  • L Fallahzadeh-Abarghooei
  • T Zahedi
  • F Mirabedi
  • M Saadat


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 (v2 =20.06, df = 1, P <0.001). Also there was a significant difference between Persians of Shiraz and Abarku (v2 =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.

Keywords: Ins/Del; Iran; XRCC4; Prevalence; Population genetics 


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eISSN: 1110-8630