中文摘要：

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。

英文摘要：

Objective The EYA1 and SIX1 gene play an important role in the development of the branchial arch system, ear and other organs. EYA1 and SIX1 were selecled as candidate genes to screen in Chinese patients with microtia. Methods One hundred patients with microtia were recruriled in this study. They all had malformation of the external and middle ear with conductive or mixed hearing impairment： 34 with preaurieular pits, 22 with preauricular tags, 8 with cleft palate, but without branchial fistula. All exons and exon-intron boundaries of EYA1 and SIX1 were analyzed using PCR amplification and sequencing. Results No mutation of EYA1 and SIX1 had been found in familial or sporadic patients of micrtia. Sequencing of the 16 coding exons of EYA1 identified four variations in patients：258G〉A（Q86Q）,813A〉G （T271T）,1278C〉T（G426G）, 1755T2〉C（H585H）. Mutational re suits of SIX1： in Exonl noncoding were not a major cause of microtia