一名中国慢性胰腺炎患者PRSS1基因的多部位突变
Multisite mutations of the PRSS1 gene in a Chinese patient with chronic pancreatitis.
作者信息
Liu Qi-Cai, Gao Feng, Cheng Zu-Jian, Ou Qi-Shui
机构信息
Department of Laboratory Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China.
出版信息
Hepatobiliary Pancreat Dis Int. 2008 Jun;7(3):331-2.
BACKGROUND
Chronic pancreatitis shows alterations in the trypsinogen gene (protease serine 1, PRSS1) in some individuals. The conversion of trypsinogen to trypsin in the pancreas is believed to be one of the causes of pancreatitis. This study was to identify the mutation of the PRSS1 gene in a Chinese patient with chronic pancreatitis and to analyze the clinical features of the disease.
METHODS
In 6 patients with chronic pancreatitis and 120 normal controls, PRSS1 genes were amplified by the polymerase chain reaction and the products were analyzed by sequencing.
RESULTS
Multisite mutations of PRSS1 were found in a patient with chronic pancreatitis. C to A mutation occurred in exon 3 of PRSS1, and T to A mutation in the same exon. These mutations were not found in normal controls or the patients with chronic pancreatitis.
CONCLUSION
These are novel mutations in PRSS1.
背景
部分慢性胰腺炎患者的胰蛋白酶原基因（蛋白酶丝氨酸1，PRSS1）存在改变。胰腺中胰蛋白酶原转化为胰蛋白酶被认为是胰腺炎的病因之一。本研究旨在鉴定一名中国慢性胰腺炎患者的PRSS1基因的突变情况，并分析该疾病的临床特征。
方法
对6例慢性胰腺炎患者和120名正常对照者，采用聚合酶链反应扩增PRSS1基因，产物进行测序分析。
结果
在一名慢性胰腺炎患者中发现PRSS1基因多部位突变。PRSS1第3外显子发生C到A的突变，同一外显子发生T到A的突变。正常对照者及其他慢性胰腺炎患者未发现这些突变。
结论
这些是PRSS1基因的新突变。
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