PAX3基因对神经嵴发育的调控及其在Waardenburg综合征发病中的作用研究

张华;冯永;

1:新疆医科大学第一附属医院耳鼻咽喉科

2:中南大学湘雅医院耳鼻咽喉科

摘要
<正>Waardenburg综合征(Waardenburg Syndrome,WS)是最常见的综合征型聋,又称听力-色素综合征,主要遗传方式为单基因致病的染色体显性遗传伴不全外显。其病因主要是由于神经嵴(neural crest,NC)发育异常而导致其分化的黑素细胞发育障碍所致[1],PAX3(Pair Box 3,配对盒基因3)是NC生长发育的关键调控基因之一。WS人群发病率为1/42 000,占先天性聋的2%5%,聋哑人群中其发病率为0.9%5%,聋哑人群中其发病率为0.9%2.8%[2]。该综合征主要临床特征为感音神经性聋及虹膜、头发和皮肤的
关键词
基金项目(Foundation):
国家自然科学基金(81260160,81170923)资助
作者
张华;冯永;
参考文献

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张华冯永