MSX1 Gene Mutations in South Indian Population - A Genetic Research
C. 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:

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

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