先天性小耳畸形EYA1和SIX1基因检测分析

Mutational Analysis of EYA1 and SIX1 Gene in Chinese Patients with Microtia

林琳;潘博;蒋海越;庄洪兴;韩娟;赵延勇;

1:中国医学科学院整形外科医院外耳中心

摘要
目的了解先天性小耳畸形患者是否存在EYA1和SIX1基因突变。方法选择先天性小耳畸形患者100例,包括13个家系的先证者和家系其他患病成员共31人及散发患者69人,其中,小耳畸形伴耳前凹34例,小耳畸形伴耳前赘或副耳22例,小耳畸形伴腭裂8例,小耳畸形伴面部不对称21例,单纯小耳畸形15例,通过PCR和直接测序对EYA1和SIX1基因进行突变检测。结果检测到4种EYA1核苷酸改变,分别为258G>A(Q86Q)、813A>G(T271T)、1278C>T(G426G)和1755T>C(H585H)。1例散发患者检测到SIX1外显子1非编码区219位C>T;另2例散发患者SIX1外显子1~28位碱基G缺失。结论本实验未在先天性小耳畸形伴耳前凹、耳前赘患者中发现EYA1和SIX1基因已知热点突变。
关键词
先天性小耳畸形;EYA1基因;SIX1基因
基金项目(Foundation):
国家自然科学基金资助项目(30500290)
作者
林琳;潘博;蒋海越;庄洪兴;韩娟;赵延勇;
参考文献

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