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Year : 2012  |  Volume : 2  |  Issue : 3  |  Page : 487-490

Interferon IRF6 gene variants and the risk of isolated cleft lip or palate in South Indian Dravidian population

1 Professor, Sree Balaji Dental College and Hospital, Chennai, India
2 Reader, Dept. of Orthodontics, Sree Balaji Dental College and Hospital, Chennai, India
3 Principal, Investigator, Human Genetics Laboratory, Sree Balaji Dental College and Hospital, Chennai, India
4 Postgraduate Student, Dept. of Orthodontics, Sree Balaji Dental College and Hospital, Chennai, India

Correspondence Address:
S Kishore Kumar
Professor, Sree Balaji Dental College and Hospital, Chennai
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Source of Support: None, Conflict of Interest: None

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Nonsyndromic clefts of the lip and palate (CL, CP, CL/P) are among the most common congenital defects caused by multi-factorial etiological factors that include both environmental and genetic factors. There is sufficient evidence to hypothesize that disease locus for this condition can be identified by candidate genes. The purpose of this study is to investigate the prevalence of mutation in exon 7 of IRF6 gene to determine whether this mutation is implicated in the South Indian Dravidian population. Material and methods: Blood samples were collected with informed consent from 10 subjects with nonsyndromic cleft lip/palate and genomic DNA was extracted from the blood samples, polymerase chain reaction was performed and the products were subjected to direct sequencing. Results: There was a significant positive association between the occurrence of homozygous valine polymorphic variant and isolated CL, CP and CL or CP (90%, n = 9) relative to heterozygous valine and isoleucine variant (10%, n = 1) in the present study. Conclusion: The study is clinically significant because it has for the first time identified the genetic status of exon 7 of IRF6 in Tamil speaking Dravidian population.

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