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目的探讨SMAD5基因与中国耳聋人群的相关性。方法采集听力诊断中心143名耳聋患者的外周静脉血,提取基因组DNA。选取听力正常的对照组149人。应用Primer3在线引物设计软件在SMAD5基因的编码区及其毗邻的内含子区域设计6对引物进行PCR(Polymerasechainreaction)扩增反应。PCR产物直接测序,测序结果应用DNAStar软件进行序列比对分析。统计处理应用STATA8.0软件。结果143名耳聋患者中含有8种听力损失表型,其中感音神经性聋及先天性聋患者达到32名。PCR扩增SMAD5基因,在内含子中发现5种SNP,进行基于群体资料的关联分析,结果显示这5种SNP与致病基因不存在显著关联。结论在本研究选择的各种耳聋表型患者中未发现SMAD5基因与其关联,说明SMAD5在本组研究中尚未显示其与耳聋相关的直接证据,但不能完全排除其在人类听觉基因调控网络中的作用(如与耳聋疾病位点处在连锁平衡状态或不与耳聋疾病位点连锁)。
Objective To investigate the association between SMAD5 gene and Chinese deafness population. Methods Peripheral venous blood was collected from 143 deaf patients in the hearing diagnosis center to extract genomic DNA. Select normal hearing control group of 149 people. Primers3 online primer design software was used to design six pairs of primers in the coding region of SMAD5 gene and its adjacent intron region for PCR (Polymerase Chain Reaction) amplification. The PCR products were sequenced directly. DNA sequencing software was used to sequence analysis. Statistical processing application STATA8.0 software. Results There were 8 hearing loss phenotypes in 143 deaf patients, including 32 patients with sensorineural deafness and congenital deafness. PCR amplification of SMAD5 gene in the intron found five kinds of SNP, based on population data-based association analysis showed that the five SNPs and pathogenic genes were not significantly associated. Conclusions SMAD5 gene was not found in all deafness phenotype patients selected in this study, indicating that SMAD5 has not shown any direct evidence of deafness in this study, but can not completely exclude its role in the regulation network of human auditory genes Role (such as deafness and disease sites in the chain of balance or not with deafness disease sites linked).