Mutation screening of exons of mesoderm posterior 2 gene in congenital scoliosis

English Keywords:Congenital scoliosis  DNA mutation analysis  Mesoderm posterior 2 gene  Exons

English Abstract:

  【Abstract】 Objectives: To explore the association between exons of mesoderm posterior 2(MESP2) gene mu?鄄tations and the occurrences of congenital scoliosis(CS) in Chinese Han population. Methods: 60 sporadic nonsyndromic CS patients(23 males and 37 females) and 100 normal controls(42 males and 58 females) were recruited. The average age was 13.2±3.8 years(range, 5-23) in CS patients and 12.9±2.7 years(range 12-16) 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 were 26 cases with formation failure, 13 cases with a failure of segmentation, and 21 cases with mixed defects. The genome DNA was extracted from peripheral blood sample. Gene exons were amplified.The products of two exons of MESP2 gene were se?鄄quenced in all subjects. The sequence of two exons in MESP2 gene in CS group were compared with those in controls group and in NCBI gene bank respectively. Results: No mutation and new single nucleotide poly?鄄morphism were found in both two exons of MESP2 gene either in CS patients or in normal controls. Con?鄄clusions: No exon mutation of MESP2 gene was found in sporadic and non-syndromic CS in Chinese Han population. The exon mutation of MESP2 gene may not participate in the pathogenesis of sporadic nonsyn?鄄dromic CS in Chinese Han population.