国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2014年
2期
82-88
,共7页
家族性腺瘤性息肉病%APC基因%突变热点%基因-表型相关性
傢族性腺瘤性息肉病%APC基因%突變熱點%基因-錶型相關性
가족성선류성식육병%APC기인%돌변열점%기인-표형상관성
Familial adenomatous polyposis%Adenomatous polyposis coli%Mutational hotspots%Genotype-phenotype correlations
家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以结直肠内生长成百上千枚息肉为主要特征,不进行治疗的患者几乎100％发展成大肠癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突变所致,越来越多学者发现APC基因突变位点和FAP临床表现具有一定相关性.本文将从FAP的分型、临床表现、诊断标准、致病基因APC、基因-表型相关性及治疗监测等方面作一综述.
傢族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以結直腸內生長成百上韆枚息肉為主要特徵,不進行治療的患者幾乎100％髮展成大腸癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突變所緻,越來越多學者髮現APC基因突變位點和FAP臨床錶現具有一定相關性.本文將從FAP的分型、臨床錶現、診斷標準、緻病基因APC、基因-錶型相關性及治療鑑測等方麵作一綜述.
가족성선류성식육병(familial adenomatous polyposis,FAP)이결직장내생장성백상천매식육위주요특정,불진행치료적환자궤호100％발전성대장암,주요유선류성식육병기인(adenomatous polyposis coli,APC)돌변소치,월래월다학자발현APC기인돌변위점화FAP림상표현구유일정상관성.본문장종FAP적분형、림상표현、진단표준、치병기인APC、기인-표형상관성급치료감측등방면작일종술.
Familial adenomatous polyposis (FAP) is a common hereditary syndrome that is characterized by the numerous adenomatous polyps in the colon and rectum,and almost all patients will develop colorectal cancer without treatment.It is mainly caused by a germline mutation of adenomatous polyposis coli (APC) gene,and more and more studies have attempted to correlate the location of the mutations on APC gene with clinical phenotypes.The aim of this review is to summarize the current clinical and genetic knowledge of FAP and the genotype-phenotype correlations.
