Mutation analysis of hairy-and-enhancer-of-split-7 gene exons in patients with congenital scoliosis

English Keywords:Congenital scoliosis  Hairy-and-enhancer-of-split-7 gene  Exon  Mutation analysis

English Abstract:

  【Abstract】 Objectives: To identify the relation between the mutation of hairy-and-enhancer-of-split-7 (HES7) gene exons and the pathogenesis of congenital scoliosis(CS) in Chinese Han population. Methods: From June 2009 to December 2010, sixty sporadic and non-syndromic CS patients( including 23 males and 37 females, averagely aged 12.9±4.4 years) were admitted in our hospital. All patients were Chinese Han population and underwent surgery, and 80 normal controls(including 32 males and 48 females, averagely aged 13.7±3.2 years) with the same Han population were regarded as control group. Genomic DNA was extracted from peripheral blood, and the sequences of four HES7 exons(exon 1-4) were amplified by self- designed premiers, then the target PCR product was purified.Sequencing analysis of purification products was applied, and the sequencing results of two groups were compared by MegAlign of DNAstar software, and the results were also compared with sequences published by NCBI to detect mutation of four exons of HES7 gene in both groups. Results: The sequences of exon 1 and exon 4 in CS group and control group were in accordance with that of the gene bank. G/A polymorphism was found in the 81st site of exon 2 in both CS group and control group, and the difference of distribution frequency of polymorphism between two groups showed no significance(P=0.727).Moreover, T/C polymorphism was found in the 37th site of exon 3 in both CS group and control group, and the difference of distribution frequency of this polymorphism between two groups also showed no significance(P=1.000). Conclusions: No exon mutation of HES7 gene was found in sporadic and non-syndromic CS in Chinese Han population. The exon mutation of HES7 gene may not be involved in the pathogenesis of sporadic and non-syndromic CS in Chinese Han population.