Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica ›› 2006, Vol. 28 ›› Issue (6): 837-839.

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Detection of Large Intragenic Mismatch Repair Genes Deletions in Chinese ereditary Nonpolyposis Colorectal Cancer Families with MultiplexLigation-dependent Probe Amplification Technique

ZHANG Hong, SHENG Jian-qiu, GENG Hong-gang, HAN Ying, LI Shi-rong,LI Ai-qin   

  1. Dpartment of Gastroenterology, General Hospital of Beijing Military Area, Beijing 100700, China
  • Received:2006-12-14 Revised:1900-01-01 Online:2006-12-30 Published:2006-12-30
  • Contact: SHENG Jian-qiu

Abstract: ABSTRACT:Objective To gain an insight into the large intragenic hMSH2 and hMLH1 deletions in Chinese hereditary nonpolyposis colorectal cancer(HNPCC)families. Method The large intragenic hMSH2 and hMLH1 deletions in 17 probands of HNPCC families were detected with multiplex ligation-dependent probe amplification(MLPA)and GeneMapper techniques. Results Three large intragenic hMSH2 deletions of exon 8, exon 1-6, and exon 1-7 were found in three families respectively, and no hMLH1 deletion was found. The deletions accounted for 19% of the total hMSH2 and hMLH1 germline pathogenic mutations. Conclusions The incidence of large intragenic mismatch repair(MMR) genes deletions is relatively higher in Chinese families, and hMSH2 deletions may be more common. It is necessary to detect the large intragenic MMR genes deletions in the molecular detection of HNPCC.

Key words: dereditary nonpolyposis colorectal cancer, larce intracenic deletion, multiplex lication-dependent probe amplification