双特异性蛋白磷酸酶6基因外显子突变与先天性脊柱侧凸关系的探讨

Mutation analysis of dual specificity phosphatase 6 gene exons in patients with congenital scoliosis

目的探讨中国汉族人群中双特异性蛋白磷酸酶6（dual specificity phosphatase 6，DUSP6）基因外显子突变与先天性脊柱侧凸（congenital scoliosis，CS）发病的关系。方法病例组为2009年6月至2011年11月行手术治疗且有完整影像学资料的散发非综合征型CS汉族患者103例（其中男41例，女62例，平均年龄12．8±4．1岁），对照组为100例年龄匹配的正常汉族青少年（其中男39例，女61例，平均年龄13．2±3．4岁）。从外周血中提取基因组DNA，设计引物扩增DUSP6基因外显子序列，PCR扩增产物直接测序，检测病例组和对照组外显子突变情况。结果病例组和对照组DUSP6基因的2个外显子序列（Exon2和Exon3）均与基因库序列一致；Exon1第820位点在两组中均存在G／T多态性，但基因多态性分布频率无显著性差异（P=0．394）。结论中国汉族CS患儿的DUSP6基因外显子未发现突变，在中国汉族人群中DUSP6基因外显子突变可能与CS的发病无关。

Objective To investigate the mutation of dual specificity phosphatase 6 （DUSP6） gene in Chinese Han patients with congenital scoliosis （CS）. Methods Between June 2009 to November 2011, 103 patients with sporadic and non-syndromes＇ CS were recruited in this study. These patients include 41 males and 62 females with an health Han people （39 males and 61 females, average age of 12. 8 ± 4. 1 years. The 100 age-matched the average age 13.2 ± 3.4 years） were taken as controls. The genomic DNA was extracted from the patients＇ peripheral blood, and exon sequences of DUSP6 gene were amplified by routine polymerase chain reaction （PCR） assay, and then sequenced to detect the potential mutation of DUSP6 gene. Results The sequence of the exons of DUSP6 gene in patients with CS was consisted with that of normal controls, and as same as the sequence recorded in NCBI GenBank. No mutation of the exons of DUSP6 gene was found in CS patients. G/T polymorphism was noted in the 820th site of exon 1 in both CS group and normal controls, but no significant difference of distribution frequency in polymorphism was found （P = 0. 394）. Conclusions No exon mutation of DUSP6 gene is found in Chinese Han patients with CS.