先天性小耳畸形候选致病基因的筛选  

Screening of candidate genes for congenital microtia

作　　者：郝少娟[1,2] 金蕾[3] 李辰龙[1] 王慧君[1] 郑枫芸[1] 马端[4] 张天宇[1] 

机构地区：[1]复旦大学附属眼耳鼻喉科医院耳鼻喉科,上海200031 [2]郑州大学第一附属医院耳鼻喉科,郑州450000 [3]上海市儿童医院耳鼻喉科,上海200062 [4]复旦大学上海医学院分子遗传研究室,上海200032

出　　处：《中国眼耳鼻喉科杂志》2017年第2期113-115,共3页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：国家自然科学基金(81570934)

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。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.

关 键 词：先天性小耳畸形 芯片 GSC HOXA2 PRKRA MSX1 MSX2 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]