CDH23基因部分外显子与爆震性耳聋易感性的关联性研究

目的探讨耳钙粘蛋白基因（CDH23）多态性与军事噪声性听力损失之间的关系。方法调查对象来自解放军某部参加过军事演习训练的官兵,其中耳聋易感组39人、不易感组33人。所有受检对象均采集外周血并提取DNA,进行CDH23基因部分外显子序列测定。结果在耳聋易感组与不易感组之间CDH23基因的3个外显子（7、8、42）未发现差异,其中rs7087735位点的基因型分布及其等位基因频率在两组间差异无显著性,与已发表资料相比差异也无显著性。结论耳钙粘蛋白基因多态性可能在噪声性听力损失的发病过程中起重要作用,但外显子7、8、42上未见与此有关联的改变。

Association of CDH23 gene's SNP with susceptibility to pulse noise induced hearing loss

Objective To investigate the association of CDH23 gene's SNP with the development of pulse noise induced hearing loss (NIHL), especially mutations of coding sequence of CDH23 gene and their relevant phenotype. Methods Data were collected from Chinese service men exposed to weapon noises during military training. They were divided into two groups based upon audiometric findings: 39 men with NIHL and 33 men with normal hearing. DNA was extracted from peripheral blood, CDH23 gene mutation was analyzed by direct sequencing for its 3 coding exons. Results The sequencing results of CDH23 gene's 3 exons were not different between the two groups. Similarly, distribution of genotypes and alleles frequencies of the rs7087735 positions showed no difference between the two groups, or when compared to previous reports. Conclusion This study suggests that the 3 exons of CDH23 gene (exon7, exon8, exon42, etc) are not associated with NIHL, although mutation of CDH23 gene may play an important role in the development of NIHL