先天性脊柱侧凸患者中胚层后方同源物2基因外显子突变的筛查

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

目的:探讨汉族人群中中胚层后方同源物2(mesoderm posterior 2,MESP2)基因外显子突变与先天性脊柱侧凸(congenital scoliosis,CS)发生的关系。方法:2010年5月～2011年3月在我院行手术治疗且有完整影像学资料的散发非综合征型CS患者60例(病例组),其中男23例、女37例,年龄5～23岁,平均13.2±3.8岁;100例健康体检者为对照组,其中男42例、女58例,年龄12～16岁,平均12.9±2.7岁。两组对象均为中国汉族人群,性别相匹配。CS患者分型:形成障碍26例,分节不良13例、混合型21例。从外周血中提取基因组DNA,根据Gene Bank中人类MESP2基因外显子(共2个外显子,exon 1和exon 2)序列设计引物将该基因的两个外显子序列全部扩增出来,然后应用DNA自动测序仪对扩增出来的目的产物进行测序,将病例组MESP2基因两个外显子测序结果与对照组该基因外显子序列、美国NCBI基因库里公布的该基因外显子序列进行比对,将对照组该基因外显子序列与美国NCBI基因库里公布的该基因外显子序列也进行比对。结果:病例组和对照组MESP2基因的exon 1和exon 2均未见突变及新的单核苷酸多态性位点。结论:中国汉族散发非综合征型CS患者MESP2基因外显子无突变,在中国汉族人群中MESP2基因外显子突变与散发非综合征型CS发病可能无关。

Objectives： To explore the association between exons of mesoderm posterior 2（MESP2） gene mutations 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 sequenced 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 polymorphism were found in both two exons of MESP2 gene either in CS patients or in normal controls.Conclusions： 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 nonsyndromic CS in Chinese Han population.