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Detailed deletion mapping on chromosome region 9p21 in human periampullary neoplasms
作者姓名:王纯巍  陆星华  徐彤  陈原稼  温小恒  钱家鸣  刘国仰  戴理  高春生
作者单位:1. 中国医学科学院中国协和医科大学北京协和医院消化内科北京 100730
2. 中国医学科学院中国协和医科大学基础医学研究所医学遗传学研究室北京 100005
摘    要:目的 进一步限定壶腹周围肿瘤染色体 9p2 1区域缺失范围。方法 选择染色体 9p2 1区域 5个微卫星多态性标记 ,通过聚合酶链反应、聚丙烯酰胺凝胶电泳和银染法 ,检测 35例壶腹周围肿瘤组织及其外周血杂合性丢失 (LOH)状况。结果  50 % ( 4 /8)胰腺癌有至少一个微卫星位点的LOH ,其中D9S974 ( 37 5% )和D9S94 2 ( 2 8 6% )丢失频率较高 ,并且有连续性丢失现象。 62 5% ( 5/8)壶腹癌在部分或全部位点出现LOH ,其中D9S94 2 ( 4 2 9% )丢失频率最高 ,其次为IFNA( 37 5% )和D9S171( 37 5% )。 14 2 % ( 1/7)胰岛素瘤有一个位点LOH。结论 壶腹周围肿瘤染色体 9p2 1最小共同缺失区位于D9S974和D9S94 2位点之间 ,距离小于 15kb ,其中可能存在一个新的涉及该肿瘤发生的相关抑癌基因。

关 键 词:Vater’s  ampulla    pancreatic  neoplasms    chromosome  mapping    genetic  marker    chromosome  deletion      polymorphism

Detailed deletion mapping on chromosome region 9p21 in human periampullary neoplasms
LU Xinghua,GAO Chunsheng,WANG Chunwei,LIU Guoyang,DAI Li,XU Tong,CHEN Yuanja,WEN Xiaoheng,QIAN Jiaming.Detailed deletion mapping on chromosome region 9p21 in human periampullary neoplasms[J].Chinese Medical Journal,2001,114(6):588-591.
Authors:LU Xinghua  GAO Chunsheng  WANG Chunwei  LIU Guoyang  DAI Li  XU Tong  CHEN Yuanja  WEN Xiaoheng  QIAN Jiaming
Institution:Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China;Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China;Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China;Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Abstract:Objective To further define the extent of chromosome 9p21 deletion in periampullary neopla sms.Methods The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase chain reaction (PCR), polyacrylamide gel electr ophoresis (PAGE) and silver staining in 35 specimens of periampullary neoplasms and their matching blood samples.Results Fifty percent (4/8) of pancreatic cancer cases showed the loss of heterozygosity at one or more microsatellite loci, with the more frequent sites of D9S974 (37.5%) and D 9S942 (28.6%), and some showing consecutive allelic loss. Sixty-two point fiv e percent (5/8) of ampullary carcinoma cases showed loss of heterozygosity at on e or more of the loci, frequent site of loss being D9S942 (42.9%) and the next most frequent being IFNA (37.5%) and D9S171 (37.5%). Loss of one locus was o bserved in 14.2% (1/7) of insulinoma.Conclusion The minimal common region of chromosome deletion in periampullary neoplasms is d efined between the D9S974 and D9S942 loci within a 15 kb interval in 9p21, sugg esting the involvement of a novel tumor suppressor gene in their carcinogenesis .
Keywords:Vater's ampulla  pancreatic neoplasms  chromosome mapping  genetic marker  chromosome deletion  polymorphism
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