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Mutation Analysis of MESP2, HES7 and DUSP6 Gene Exons in Patients with Congenital Scoliosis

机译:立式脊柱症患者MES2,HES7和DUSP6基因外显子的突变分析

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MESP2, HES7 and DUSP6 genes have been proved to be involved in the etiopathogenesis of congenital scoliosis (CS) in animal embryo studies, however, whether this association was detected in human CS patients also remains unknown. One hundred sporadic and non-syndromic CS patients and 100 age-matched normal controls were included in this study. Mutation screening of gene exons were performed by DNA sequencing. However, no mutation or new single nucleotide polymorphism was found in the exons of MESP2, HES7 and DUSP6 genes in CS patients and normal controls. MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
机译:已证明Mesp2,Hes7和Dusp6基因已被证明参与动物胚胎研究中先天性脊柱侧凸(CS)的病因发生,然而,在人CS患者中是否检测到这种关联也仍然未知。本研究纳入一百次孢子和非综合征CS患者和100岁符合型正常对照。通过DNA测序进行基因外显子的突变筛选。然而,在CS患者的Mesp2,Hes7和Dusp6基因的外显子中没有发现突变或新的单核苷酸多态性和正常对照。 Mesp2,Hes7和Dusp6基因可能不会参与中国汉族人群散发性和非综合征Cs的病因发生。

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