Brief Reports
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World J Gastroenterol. May 28, 2005; 11(20): 3144-3146
Published online May 28, 2005. doi: 10.3748/wjg.v11.i20.3144
HMLH1 gene mutation in gastric cancer patients and their kindred
Jian-Hua Li, Xian-Zhe Shi, Shen Lü, Min Liu, Wan-Ming Cui, Li-Na Liu, Jing Jiang, Guo-Wang Xu
Jian-Hua Li, Shen Lü, Min Liu, Laboratory of Molecular Biology, the Second Hospital of Dalian Medical University, Dalian 116027, Liaoning Province, China
Xian-Zhe Shi, Guo-Wang Xu, National Chromatographic Research and Application Center, Dalian Institute of Chemical Physics, the Chinese Academy of Sciences, Dalian 116011, Liaoning Province, China
Wan-Ming Cui, Li-Na Liu, Department of Gastroenterology, the First Hospital of Dalian Medical University, Dalian 116001, Liaoning Province, China
Jing Jiang, Department of Material Engineering, Dalian Science and Technology University, Dalian 116027, Liaoning Province, China
Author contributions: All authors contributed equally to the work.
Correspondence to: Shen Lü, Professor, PhD, Laboratory Center of Molecular Biology, The Second Hospital of Dalian Medical University, Dalian 116027, Liaoning Province, China.
Telephone: +86- 411-84687554
Received: April 15, 2004
Revised: April 16, 2004
Accepted: May 9, 2004
Published online: May 28, 2005

AIM: To study the status of hMLH1 gene point mutations of gastric cancer kindreds and gastric cancer patients from northern China, and to find out gene mutation status in the population susceptible to gastric cancer.

METHODS: Blood samples of 120 members from five gastric cancer families, 56 sporadic gastric cancer patients and control individuals were collected. After DNA extraction, the mutations of exon 8 and exon 12 of hMLH1 gene were investigated by PCR-SSCP-CE, followed by DNA sequencing.

RESULTS: In the five kindreds, the mutation frequency was 25% (5/16) for the probands and 18% (19/104) for the non-cancerous members, which were significantly higher than the controls (P<0.01 χ2 = 7.71, P<0.01 χ2 = 8.65, respectively). In the sporadic gastric cancer, the mutation frequency was 7% (4/56), which was similar to that (5/100) in the healthy controls. The mutation point of exon 8 was at 219 codon of hMLH1 gene (A-G), resulting in a substitution of Ile-Val (ATC-GTC), whereas the mutation of exon 12 was at 384 codon of hMLH1 gene (T-A) resulting in a substitution of Asp-Val (GTT-GAT), which were the same as previously found in hereditary nonpolyposis colorectal carcinoma.

CONCLUSION: The members of gastric cancer families from northern China may have similar genetic background of hMLH1 gene mutation as those of hereditary nonpolyposis colorectal carcinoma.

Keywords: Gastric cancer kindred, Mismatch repair, Mutation, HNPCC