title: [Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands].
abstract: OBJECTIVE
  To investigate the mutations of the mismatch repair genes hMLH1 and hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC).
  
  
  METHODS
  The DNA samples of 76 probands of HNPCC families underwent PCR amplification and sequencing on 35 exons in hMLH1 and hMSH2 genes.
  
  
  RESULTS
  (1) The overall mutation rate of the hMLH1 and hMSH2 genes was 33% (25/76). (2) 22 mutations were found, 16 in the hMLH1 gene and 6 in the hMSH2 gene. (3) The spectrum of mutation type included frame shift, nonsense, splice site, and missense mutations. Missense mutation was the most common mutation type.
  
  
  CONCLUSIONS
  The hMLH1 and hMSH2 mutations in Chinese HNPCC families show a wide spectrum. It seems that hMLH1 gene is involved more frequently than hMSH2 gene. A certain number of HNPCC families can be benefited from the genetic screening for mutation of the mismatch repair genes.
authors.affiliation: Department of Gastroentrorology, General Hospital of Beijing Command, Beijing 100700, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Fu
authors.forename: Jian-qiu
authors.initials: JQ
authors.lastname: Sheng
authors.forename: Zi-qin
authors.initials: ZQ
authors.lastname: Sun
authors.forename: Min
authors.initials: M
authors.lastname: Han
authors.forename: Ji-sheng
authors.initials: JS
authors.lastname: Huang
authors.forename: Hong
authors.initials: H
authors.lastname: Mu
authors.forename: Wen-liang
authors.initials: WL
authors.lastname: Han
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Niu
authors.forename: Ai-qin
authors.initials: AQ
authors.lastname: Li
authors.forename: Zi-tao
authors.initials: ZT
authors.lastname: Wu
authors.forename: Shi-rong
authors.initials: SR
authors.lastname: Li
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005787:Gene Frequency; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein