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中文摘要：
在所有的连接蛋白相关的人类疾病，耳聋是一种高频率的最重要的疾病。穆均GJB2（间隙连接蛋白β2，也被称为连接蛋白26，Cx26）与非综合征性或综合性的结构rineural听力损失也占相当大的比例，在许多研究人群的先天性耳聋患者基因链接（卡斯蒂略和卡斯蒂略，2011）。例如，在235de1c GJB2突变显示约1%的频率，在东亚人群的最常见的突变（燕等人。，2003）。很多的努力已投入的研究在小鼠模型和人类GJB2基因的功能。在小鼠，GJB2广泛缺失导致胚胎致死性由于降低胎盘葡萄糖的摄取，这是没有发现在人类（高田和平野，1997；加布里埃尔等人。，1998）。在人类，GJB2基因缺陷不能使胚胎致死（.D.等人。，2002）。然而，GJB2相关听力损失的研究是许多困难阻碍，如无法获得人类耳蜗神经组织和声学，因此GJB2相关听力损失是潜在的机制仍不清楚。
英文摘要：
In all the connexin-associated human diseases, deafness is one of the most important diseases with high frequency. The mu- tations of GJB2 （gap junction protein β2, also called connexin 26, Cx26） gene link with nonsyndromic or syndromic senso- rineural hearing loss and were shown to account for a large proportion of congenital deaf cases in many studied populations （del Castillo and del Castillo, 2011）. For example, the 235de1C mutation in GJB2 shows the frequency of approximately 1% and is the most frequent mutation in East Asian population （Yan et al., 2003）. Many efforts have been put to study the function of Gjb2 gene in both mouse model and human. In mouse, extensive deletion of Gjb2 causes embryo lethal due to the decreased transplacental glucose uptake, which was not found in human （Takata and Hirano, 1997; Gabriel et al., 1998）. In human, GJB2 deficiency is not able to cause embryo lethal （D＇Andrea et al., 2002）. However, the study of GJB2-associated hearing loss is hampered by many difficulties, such as unobtainable human cochlea and acoustic nerve tissues, and therefore the GJB2-associated hearing loss are underlying mechanisms of still remaining unclear.
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