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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。
Objective: To investigate the association between exon mutation and congenital scoliosis (CS) in hairy-and-enhancer-of-split-7 (HES7) Relationship. Methods: From June 2009 to December 2010, 60 Han patients (non-syndromic CS patients) undergoing surgical treatment in our hospital with complete imaging data were enrolled in this study. There were 23 males and 37 females, aged 12.9 ± 4.4 years; control group was 80 normal Han people, including 32 males and 48 females, aged 13.7 ± 3.2 years. The genomic DNA was extracted from the peripheral blood of each subject and the exon 1 to 4 of HES7 gene was designed to amplify the exon 1 to 4 of the HES7 gene. The purified DNA was sequenced automatically using the DNAStar software MegAlign. The two sequencing results And compared with the exon sequence of HES7 gene released by the NCBI gene bank in the United States to compare the exon mutation status of the two groups. Results: The exon 1 and exon 4 sequences of HES7 gene in case group and control group were all consistent with the exon sequence of HES7 gene in exon 2 gene. The 81st locus of exon 2 had G / A polymorphism in both groups, but the distribution of gene polymorphism There was no significant difference (P = 0.727) between the two groups (P = 0.727). There was also a T / C polymorphism in the 37th site of exon 3, but there was no significant difference in the frequency of gene polymorphism (P = 1.000). Conclusion: There is no mutation of exon of HES7 gene in non-syndromic CS patients of Han nationality in China. Exon mutation of HES7 gene in Chinese Han population may have nothing to do with the onset of non-syndromic CS.