Presence of sequence and SNP variation in the IRF6 gene in healthy residents of Guangdong Province

Abstract

ObjectiveThis study was to investigate the single nucleotide polymorphism (SNP) in the interferon regulatory factor 6 (IRF6) gene in healthy residents of Guangdong Province, China, for further analysis of their associations with the development of cleft lip with or without palate (CL/P).MethodologyDNA was extracted from blood samples of 13 healthy residents. IRF6 genes were sequenced and analyzed by alignment to the reference sequences in GenBank.ResultsThe IRF6 genes containing 45.21% GC were 25016–25046 bp in length, and had 2215-bp exons and a 1404-bp coding region. There were 65 SNPs, including 58 SNPs in the 5′-untranslated region or introns and 7 SNPs in the exons. These sites had two alleles, including 39 transition sites and 26 transversion sites. Five novel SNPs were identified. c. 459G>T and c. 820G>A in the coding region represented silent and Val274Ile mutations, respectively. The SNPs made two sequences (GenBank HQ875393 and JF346417).ConclusionsThe sequences and SNP profiles of the IRF6 gene in healthy residents of Guangdong Province are consistent with the one in GenBank but with slight variations. Our findings form a basis for further investigation of the association between IRF6 gene polymorphisms and CL/P in residents of Guangdong Province.