Mutation Screening Of Exons Of Mesoderm Posterior2Gene In Congenital Scoliosis

Mutation screening of exons of mesoderm posterior2gene in congenital scoliosisObjective:To explore the association between exons of mesoderm posterior2(MESP2) gene mutations and the occurrences of congenital scoliosis (CS) in a Chinese Han population.Methods:Sixty sporadic nonsyndromic CS patients (23males and37females) and100normal controls (42males and58females) were recruited. The average age was13.2±3.8years (range5-23years) in CS patients and12.9±2.7years (range12-16years) in normal controls. Both groups belong to Han Nationality. No significant differences of average age and sex distribution were found between the two groups. In CS patients, there were26cases with formation failure,13cases with a failure of segmentation, and21cases with mixed defects.The genome DNA was extracted from peripheral blood sample. Gene exons were amplified. The products of two exons of MESP2gene were sequenced in all subjects. The sequence of two exons in MESP2gene in CS group were compared with those in controls group and in NCBI gene bank respectively. Results:No mutation and new single nucleotide polymorphism were observed in both two exons of MESP2gene either in CS patients or in normal controls.Conclusions:No exon mutation of MESP2gene was found in sporadic and non-syndromic CS in Chinese Han population. The exon of MESP2gene may not participate in the pathogenesis of sporadic nonsyndromic CS in Chinese Han population.