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

Abstract

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. Key words: Scoliosis; Exons; Mutation