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目的探讨人工耳蜗植入患者的缝隙连接蛋白相关基因(gapjunctionproteinbeta2,GJB2)突变情况,分析耳聋的遗传学发病机制。方法对接受人工耳蜗植入的241例患者进行聋病基因GJB2基因突变筛查。结果241例人工耳蜗植入患者中检测出65例GJB2基因突变,其中1例为新发现突变GJB2235delC/598G>A。结论人工耳蜗植入患者中GJB2基因突变的发生率为27.0%,GJB2基因突变是人工耳蜗植入人群中耳聋的主要致病因素之一。
Objective To investigate the mutation of gapjunction protein kinase (GJB2) in cochlear implanted patients and to analyze the genetic pathogenesis of deafness. Methods A total of 241 patients with cochlear implants were screened for GJB2 mutation. Results A total of 65 cases of GJB2 gene mutations were detected in 241 cases of cochlear implants, of which 1 case was a newly found mutation GJB2235delC / 598G> A. Conclusion The incidence of GJB2 gene mutation was 27.0% in patients undergoing cochlear implants. GJB2 gene mutation was one of the major causative agents of deafness in cochlear implants.