遗传性胰腺炎胰蛋白酶原基因突变分析
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刘奇才, 郜 峰, 许幼仕, 王凤清, 潘云振, 欧启水
遗传性胰腺炎;PRSS1基因突变;临床特征,刘奇才,许幼仕,王凤清,潘云振,欧启水,郜峰,刘奇才,通讯作者:,Mutationsofthecationictrypsinogengeneinpatientswithhereditarypancreatitis
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刘奇才, 许幼仕, 王凤清, 潘云振, 欧启水, 福建医科大学附属第一医院检验科 福建省福州市 350005
郜峰, 福建医科大学附属第一医院病理科 福建省福州市 350005
刘奇才, 硕士研究生, 主要从事基因诊断的研究.
通讯作者: 欧启水, 350005, 福建省福州市茶中路20号, 福建医科大学附属第一医院检验科, lqc673@yahoo.com.cn
电话: 0591-87982327
收稿日期: 2007-06-07 修回日期: 2007-09-25
Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis
Qi-Cai Liu, Feng Gao, You-Shi Xu, Feng-Qing Wang, Yun-Zhen Pan, Qi-Shui Ou
Qi-Cai Liu, You-Shi Xu, Feng-Qing Wang, Yun-Zhen Pan, Qi-Shui Ou, Department of Laboratory Medicine, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, China
Feng Gao, Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, China
Correspondence to: Dr. Qi-Shui Ou, Department of Laboratory Medicine, the First Affiliated Hospital of Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, Fujian Province, China. lqc673@yahoo.com.cn
Received: 2007-06-07 Revised: 2007-09-25
Abstract
AIM: To identify the mutation character of cationic trypsin gene (PRSS1) in the patients of hereditary pancreatitis (HP).
METHODS: Two Patients with hereditary pancreatitis, five exons of PRSS1 gene were amplified by PCR and it’s products were analyzed by sequencing, related clinical data were also collected.
RESULTS: Two patients of the HP families were found c.415 T > A mutation. It’s members showed symptom about 16 years old.
CONCLUSION: PRSS1 gene c.415 T >A mutation may be an factor associated with hereditary pancreatitis.
Key Words: Hereditary pancreatitis; Mutation of PRSS1; Characterization
Liu QC, Gao F, Xu YS, Wang FQ, Pan YZ, Ou QS. Mutations in the cationic trypsinogen gene of patients with hereditary pancreatitis. Shijie Huaren Xiaohua Zazhi 2007; 15(33): 3514-3517 ......
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