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4180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.%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 4180 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.
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