中文摘要：

目的应用Affymetrix SNP 6.0芯片技术筛选先天性小耳畸形的候选致病基因。方法对3例小耳畸形患者血液基因组进行Affymetrix SNP 6.0芯片分析,采用Birdseed软件分析样本的芯片数据,通过Minor Allele Frequency对在患者和汉族人参考样本中有显著差异的单核苷酸多态性（SNP）进行筛选。结果得到SNP相关基因4 180个,根据已知文献收集和耳部发育相关并被SNP 6.0注释的基因共5个,包括MSX1,MSX2,GSC,HOXA2和PRKRA。结论应用Affymetrix SNP 6.0芯片技术筛选出5个先天性小耳畸形的候选致病基因,分别是MSX1,MSX2,GSC,HOXA2和PRKRA。

英文摘要：

Objective To screen the candidate genes for congenital microtia by using Affymetrix SNP 6. 0.Methods Genome-wide scan in 3 patients of microtia was performed by using Affymetrix SNP 6. 0 array. The data were analyzed by using Birdseed software,and SNPs were selected through Minor Allele Frequency. Results A total of 4 180 genes associated to the SNPs were acquired,and 5 of the genes played an important role in the development of ear according to the literatures,including MSX1,MSX2,GSC,HOXA2 and PRKRA. Conclusions Five candidate genes have been identified by using Affymetrix SNP 6. 0,including MSX1,MSX2,GSC,HOXA2 and PRKRA.