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耳聋是环境和遗传因素引起的常见疾病,新生儿严重听力损害的发生率约为1‰,其中约60%的耳聋患者是遗传性的。目前已知与人听力有关的基因约有100多个,但仅有很少基因可进行常规的检测。现就目前基因突变分子学检测在听力筛查中的应用的研究现状总结如下:GJB2基因编码间隙连接蛋
Deafness is a common disease caused by environmental and genetic factors. The incidence of severe hearing loss in neonates is about 1 ‰, of which about 60% of deaf patients are hereditary. There are currently about 100 genes related to human hearing, but only a few genes can be routinely tested. Now on the current genetic mutation molecular detection of hearing screening applications are summarized as follows: GJB2 gene encoding gap junction eggs