CAJ | 학술논문

目的分析家族性腺瘤息肉病(familial adenomatous polyposis,FAP)家系结肠腺瘤息肉病(adenomatous polyposis coli,APC)基因的突变特点.方法提取13个FAP家系成员外周血DNA,采用多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)以及PCR扩增,之后直接测序对APC基因进行检测,将测序及MLPA结果与APC基因的野生序列进行比对,寻找各家系成员APC基因的致病性突变.结果共有5个家系筛查出基因突变,分别为c.3184_3187 del CAAA、c.5432C＞T、c.3925_3928 del AAAA及两个c.3925_3929 del AAAAG.小片段缺失突变多处于AAAAG串联重复序列中.结论处于APC基因AAAAG串联重复序列中的c.3925_3929可能为APC基因的突变热点区域,该位点以碱基缺失居多,尤其是密码子1309的5个碱基缺失.
목적 분석가족성선류식육병(familial adenomatous polyposis,FAP)가계결장선류식육병(adenomatous polyposis coli,APC)기인적돌변특점.방법 제취13개FAP가계성원외주혈DNA,채용다중련접탐침확증(multiplex ligation-dependent probe amplification,MLPA)이급PCR확증,지후직접측서대APC기인진행검측,장측서급MLPA결과여APC기인적야생서렬진행비대,심조각가계성원APC기인적치병성돌변.결과 공유5개가계사사출기인돌변,분별위c.3184_3187 del CAAA、c.5432C＞T、c.3925_3928 del AAAA급량개c.3925_3929 del AAAAG.소편단결실돌변다처우AAAAG천련중복서렬중.결론 처우APC기인AAAAG천련중복서렬중적c.3925_3929가능위APC기인적돌변열점구역,해위점이감기결실거다,우기시밀마자1309적5개감기결실.
Objective To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).Methods Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees.Multiplex ligationdependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene.Subsequently,potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.Results Germline mutations have been identified in 5 FAP pedigrees,which included e.3184_3187delCAAA,c.5432C＞T,c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees).Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.Conclusion C.3920_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations,which are mostly deletional mutations,especially the 5 bp base deletion at codon 1309.