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[慢性特发性胰腺炎患者的阳离子胰蛋白酶原基因突变]

[Cationic trypsinogen gene mutation in patients with chronic idiopathic pancreatitis].

作者信息

Lee Woo Jin, Kim Kyung-Ah, Lee June Sung, Jeon Young Bin, Jeong Ji Bong, Ryu Ji Kon, Kim Yong-Tae, Yoon Yong Bum, Kim Chung Yong

机构信息

Center for Liver Cancer, National Cancer Center, Goyang, Korea.

出版信息

Korean J Gastroenterol. 2004 Jan;43(1):41-6.

Abstract

BACKGROUND/AIMS: Mutation of Cationic trypsinogen gene is clearly associated with hereditary pancreatitis and plays an important role in the pathogenesis of pancreatitis. According to literature, this mutation is occasionally occurred in patients with pancreatitis in Western countries and Japan. The aim of this study was to find out whether the mutation was observed in Korean patients with chronic idiopathic pancreatitis.

METHODS

Peripheral blood samples of 11 patients with chronic idiopathic pancreatitis were collected consecutively, and DNA was extracted from the samples. Polymerase chain reaction was performed in exon 2 and 3 of cationic trypsinogen gene. Then, DNA products were purified and sequenced.

RESULTS

The mutation was not found in exon 2 and 3 of cationic trypsinogen gene in these patients.

CONCLUSIONS

There was no cationic trypsinogen mutation in Korean patients with chronic idiopathic pancreatitis. Further large sampled cohort study is needed.

摘要

背景/目的:阳离子胰蛋白酶原基因突变与遗传性胰腺炎明显相关,在胰腺炎发病机制中起重要作用。据文献报道,该突变在西方国家和日本的胰腺炎患者中偶尔出现。本研究的目的是查明韩国慢性特发性胰腺炎患者中是否存在该突变。

方法

连续收集11例慢性特发性胰腺炎患者的外周血样本,并从样本中提取DNA。对阳离子胰蛋白酶原基因的第2和第3外显子进行聚合酶链反应。然后,对DNA产物进行纯化和测序。

结果

这些患者的阳离子胰蛋白酶原基因第2和第3外显子未发现突变。

结论

韩国慢性特发性胰腺炎患者不存在阳离子胰蛋白酶原突变。需要进一步进行大样本队列研究。

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