Genetic significance of muscle segment homeo box1 gene in South Indian population for cleft lip and palate

BACKGROUND: Oral clefts having a prehistoric existence and the latest scientific technologies have shown new insights in identifying the cause and management. So this is a DNA/gene based study has been presented in this article which comprises the significance of MSX1 gene in cleft samples of major states of South India. AIMS: To evaluate the significance of MSX1 gene in South Indian population having cleft lip and palate. SETTINGS AND DESIGN: Four states of native population were set for the study. From each state renowned cleft operating center was selected with the prior ethical and suitable permission and patient consent was taken. Blood samples were collected from each effected sibling were studied and their details were coded. The collected blood samples were used for DNA isolation, PCR amplification and sequencing. MATERIALS AND METHODS: Eighty patients with non-syndromic CL/CLP/CP from various cleft operating centers in southern states (Karnataka, Tamilnadu, Kerala and Andhra Pradesh) with different ethnic/cultural background were taken. Twenty samples (families) were collected from each state and sequenced and compared with earlier data. RESULTS: Analysis of this study indicates that mutation of either G273A/C or C102G seems to cause cleft formation. In this analysis, we found a novel mutation (414G to T) which is submitted to NCBI Gene data bank (EF065625). CONCLUSION: This study supports MSX1 gene leading to cleft lip and palate in the samples studied.