先天性小耳畸形临床分析和PACT基因检测

Clinical analysis and PACT gene mutation test in microtia patients

目的先天性小耳畸形临床分析和探讨PACT基因在先天性小耳畸形中的作用。方法实验组为2007年1月～2008年3月就诊的先天性小耳畸形患者,进行耳廓畸形分型;对于签写知情同意书的人员抽取外周血约5ml,用于制备基因组DNA的血样,抽提基因组DNA,然后对PACT基因编码蛋白质的外显子进行PCR扩增,测序分析PCR产物。对照组为就诊的无耳廓畸形的瘢痕患者。结果共收集先天性小耳畸形患者共221例,11例具有家族史,包括先证者在内共有27例先天性小耳畸形患者。4例先天性小耳畸形患者亲属中一人或多人具有附耳症状。221例先天性小耳畸形患者共240只畸形耳廓,Ⅰ度先天性小耳畸形48只,Ⅱ度先天性小耳畸形67只,Ⅲ度先天性小耳畸形125只。实验组和对照组未发现PACT基因突变。1例散发患者PACT基因外显子4出现DNA序列改变,为c.385T>A,但编码氨基酸未见改变G129G。结论先天性小耳畸形患者未见PACT基因突变,PACT相关基因有待于进一步筛查。

Objective： To analyze the clinical variation of malformed ears and to explore the role of PACT gene in microtia patients. Methods： The test group were microtia patients who were seen in our center from Jan 2007 to Mar 2008. The control group was individuals with no ear malformation. All the test and control individuals were informed consent. 5ml blood samples were saved and the DNA was extracted. Exons of PACT gene were analyzed by polymerase chain reaction and direct sequencing. Results： 211 microtia patients and 30 controls were collect. 11 microtia patients had the history of microtia and there were 27 patients including the probands. 4 microtia patients had relatives who could be observed accessory auricles. Conclusion ： PACT gene mutation can be excluded in microtia patients. The genes correlated with PACT still need to be identified.