CAJ | 학술논문

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(Exon 2和Exon 3)均与基因库序列一致；Exon 1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.
목적 탐토중국한족인군중쌍특이성단백린산매6 (dual specificity phosphatase 6,DUSP6)기인외현자돌변여선천성척주측철(congenital scoliosis,CS)발병적관계.방법 병례조위2009년6월지2011년11월행수술치료차유완정영상학자료적산발비종합정형CS한족환자103례(기중남41례,녀62례,평균년령12.8±4.1세),대조조위100례년령필배적정상한족청소년(기중남39례,녀61례,평균년령13.2±3.4세).종외주혈중제취기인조DNA,설계인물확증DUSP6기인외현자서렬,PCR확증산물직접측서,검측병례조화대조조외현자돌변정황.결과 병례조화대조조DUSP6기인적2개외현자서렬(Exon 2화Exon 3)균여기인고서렬일치；Exon 1제820위점재량조중균존재G/T다태성,단기인다태성분포빈솔무현저성차이(P=0.394).결론 중국한족CS환인적DUSP6기인외현자미발현돌변,재중국한족인군중DUSP6기인외현자돌변가능여CS적발병무관.
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 average age of 12.8± 4.1 years.The 100 age-matched health Han people (39 males and 61 females,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 exonmutation of DUSP6 gene is found in Chinese Han patients with CS.