Goosecoid基因突变与先天性小耳畸形的关系

Relationship Between Mutation of Goosecoid Gene and Microtia

目的:对收集的43例先天性小耳畸形患者进行遗传因素分析,对Goosecoid(GSC)基因测序,探讨GSC基因与先天性小耳畸形的关系。方法:采集43例小耳畸形患者的外周血提取基因组DNA,对GSC基因的三个外显子分别设计引物,经PCR扩增纯化后直接测序。结果:6例患者在第二外显子的第197bp处发生了C→T的同义突变,编码氨基酸仍为酪氨酸;2例患者在第三外显子的第125bp处发生了A→G的错义突变,编码氨基酸由谷氨酸变成谷氨酰胺。结论:在先天性小耳畸形的患者中发现了GSC基因的突变。

Objective： To analyse inheritable factors of 43 microtia cases collected, sequence goosecoid （GSC） gene and investigate the reason of congenital microtia. Methods：The peripheral blood of 43 microtia cases were collected ,from which, genome DNA was extracted. Primers of three exons of the GSC were designed, and then sequenced after PCR amplification and deputation. Results：Synonymity mutation of C--＇T occurred on 197bp in the second exons of 6 cases and amino acid is still tyrosine. Nonsynonymity mutation of A-q3 occurred on 125bp in the third exons of 2 cases and amino acid （glutamic acid） was changed into glutamine. Conclusion：The mutation of GSC gene was found in microfia cases.