摘要
目的探讨GJB2基因多态性在听力减退中的意义。方法收集临床资料,应用Sanger测序技术进行耳聋基因检测。结果该病例中父亲和女儿均为以高频听力损失为主,进行性加重,测序结果显示二人均携带GJB2基因多态性c.79G>A、c.341A>G。结论 GJB2基因c.79G>A、c.341A>G作为基因多态性可能和其他修饰因素共同参与听力下降。
Objective:To investigate the clinical features of a Chinese family with hearing loss,and to search for candidate mutational genes. Method:Collect clinical materials was collected and Sanger gene sequencing was performed in the family. Results:We identified a genetic polymorphisms GJB2 c.79 G>A、c.341 A>G in father and a daughter with progressive hearing loss. Conclusion:Polymorphism of the GJB2 gene c.79 G>A、c.341 A>G may related with hearing impairment.
作者
张宁
孙艳美
张萍萍
李亚丽
ZHANG Ning;SUN Yan-mei;ZHANG Ping-ping;LI Ya-li(Department of Reproductive and Genetic family,Hebei General Hospital,Shijiazhuang,050051)
出处
《中国优生与遗传杂志》
2019年第8期908-909,920,共3页
Chinese Journal of Birth Health & Heredity
基金
河北省科技计划项目17277728D
河北省医学科学研究重点课题项目20170296
