MSX1 Gene Mutations in South Indian Population - A Genetic ResearchC. Deepak1 and Arvind Ramanathan2
1Department of Orthodontics, Bharath University Chennai, India
2Sree Balaji Dental College and Hospital Bharath University Chennai, India.
Corresponding Author E-mail: firstname.lastname@example.org
Abstract: To understand the role of a homeobox gene (MSX1) in South Indian non-Syndromic cleft palate patients. A cross sectional study was made of non-Syndromic cleft lip and palate patients. The study was conducted at an Orthodontic Department of a Post graduate teaching hospital. Twenty five patients (South Indian ) were included in the study,the inclusion criteria consisted of ,non-syndromic oral clefting, cl/p,and absence of a tooth or teeth ( partial tooth agenesis). Clinical examination Case Summary, and radiographic evidence of missing teeth were taken .Blood samples were taken after a written consent, and were collected in 1.5 ml polypropylene microfuge tubes , transferred to the genetic laboratory in a box of dry ice. Genomic DNA was isolated for all patients and controls and exon 1 site (MSX1) was sent for polymerase chain reaction amplification. The PCR (polymerase chain reaction) product was further sent for restriction enzyme analysis with 0.5 units of MboII. A Mutations search done in the exon 1 region of the MSX1 gene was reported in a study done by Vandenboogard et al.15, a dutch family showing non –syndromic oral facial cleft lip and palate , this research study was done to find if any mutation of a homeobox gene (MSX1 exon 1 region) could have been involved in the Indian non-syndromic oral clefting. There was a perfect digestion of the enzyme, thus confirming that there was a absence of mutation in all the patient samples. Conclusion: The finding of absence of mutation in all the selected patient samples correlated with those reported for a predominately Caucasian population (Lidral et al.,1998),but they not correrate with those reported from a study of a Dutch Family(vanden Boogerd et al., 2000).The findings from this study are very significant as they establish that a mutation of MSX1 gene could have a diverse genetic involvement .As this study was done in the coding region of the selected gene it can be further expanded to include all the non-coding regions.Keywords: South Indian Non-Syndromic clefting; Homeobox gene; MSX1 exon 1 Gene; Poly merase chain reaction; Mutations Back to TOC