先天性脊柱侧凸发状分裂相关增强子-7基因外显子突变的筛查

目的:探讨汉族人群中发状分裂相关增强子-7(hairy-and-enhancer-of-split-7,HES7)基因外显子(exon)突变与先天性脊柱侧凸(congenital scoliosis,CS)发病的关系。方法:2009年6月～2010年12月在我院行手术治疗且有完整影像学资料的汉族散发非综合征型CS患者60例(病例组),其中男23例,女37例,年龄12.9±4.4岁;对照组为80例正常汉族人,其中男32例,女48例,年龄13.7±3.2岁。从每例受检者外周血中提取基因组DNA,设计引物扩增HES7基因exon(共4个:exon 1～4)序列,目的产物纯化后DNA自动测序,应用DNAstar软件的MegAlign将两组测序结果进行对比,并与美国NCBI基因库所公布的HES7基因exon序列进行比对分析,比较两组exon突变情况。结果:病例组和对照组HES7基因exon 1和exon 4序列均与基因库HES7基因exon序列一致;exon 2第81位点在两组中均存在G/A多态性,但基因多态性分布频率无显著性差异(P=0.727);exon 3第37位点在两组中均存在T/C多态性,但基因多态性分布频率也无显著性差异(P=1.000)。结论:中国汉族散发非综合征型CS患者HES7基因exon无突变,在中国汉族人群中HES7基因exon突变与散发非综合征型CS的发病可能无关。

Mutation analysis of hairy-and-enhancer-of-split-7 gene exons in patients with congenital scoliosis

Objectives: To identify the relation between the mutation of hairy-and-enhancer-of-split-7(HES7) gene exons and the pathogenesis of congenital scoliosis(CS) in Chinese Han population.Methods: From June 2009 to December 2010,sixty sporadic and non-syndromic CS patients(including 23 males and 37 females,averagely aged 12.9±4.4 years) were admitted in our hospital.All patients were Chinese Han population and underwent surgery,and 80 normal controls(including 32 males and 48 females,averagely aged 13.7±3.2 years) with the same Han population were regarded as control group.Genomic DNA was extracted from peripheral blood,and the sequences of four HES7 exons(exon 1-4) were amplified by self-designed premiers,then the target PCR product was purified.Sequencing analysis of purification products was applied,and the sequencing results of two groups were compared by MegAlign of DNAstar software,and the results were also compared with sequences published by NCBI to detect mutation of four exons of HES7 gene in both groups.Results: The sequences of exon 1 and exon 4 in CS group and control group were in accordance with that of the gene bank.G A polymorphism was found in the 81st site of exon 2 in both CS group and control group,and the difference of distribution frequency of polymorphism between two groups showed no significance(P=0.727).Moreover,T C polymorphism was found in the 37th site of exon 3 in both CS group and control group,and the difference of distribution frequency of this polymorphism between two groups also showed no significance(P=1.000).Conclusions: No exon mutation of HES7 gene was found in sporadic and non-syndromic CS in Chinese Han population.The exon mutation of HES7 gene may not be involved in the pathogenesis of sporadic and non-syndromic CS in Chinese Han population.