5个家族性腺瘤样息肉病家系APC基因突变研究

Analysis of APC mutation in five kindreds of familial adenomatous polyposis

目的探讨结肠腺瘤病(adenomatous polyposis coli,APC)基因在5个云南省家族性腺瘤样息肉病(Familial adenomatous polyposis,FAP)家系的突变情况。方法对昆明医科大学第一附属医院住院病例进行统计,查找FAP家系,绘制家系图谱。抽取该家系成员外周静脉血提取DNA,利用PCR方法扩增APC基因,应用DNA自动测序仪进行测序。结果 5个家系(2个白族家系,2个彝族家系,1个汉族家系)中,只有汉族家系查出APC基因1196S>SX(1196号氨基酸由丝氨酸变为了终止密码子)的突变。其余家系均未查出APC基因的无义突变。结论通过对5个FAP家系进行APC基因测序,发现云南省少数民族家系APC基因的突变率不高,APC基因突变存在民族差异。

Objective To investigate the APC mutation in five kindreds of familial adenomatous polyposis（4 minority nationalities and 1 han nationality） for early diagnosis and provide the basis for family.Methods 1411 pathologically confirmed colorectal cancer patients were collected and screened for familial adenomatous polyposis.The mutations of APC gene in the FAP families were detected.Results One of the FAP families was found APC gene mutation（1196SSX）.All people in the family carried this mutation.Conclusion There is one Han family found mutation of APC.