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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.

PMID:14745251
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。

相似文献

1
[Cationic trypsinogen gene mutation in patients with chronic idiopathic pancreatitis].[慢性特发性胰腺炎患者的阳离子胰蛋白酶原基因突变]
Korean J Gastroenterol. 2004 Jan;43(1):41-6.
2
Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis.日本遗传性胰腺炎家族中阳离子胰蛋白酶原基因第2和第3外显子的突变
Gut. 1999 Feb;44(2):259-63. doi: 10.1136/gut.44.2.259.
3
Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis.
Digestion. 2001;64(1):54-60. doi: 10.1159/000048839.
4
[Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis].[韩国慢性胰腺炎患者SPINK1和PRSS1基因的突变情况]
Korean J Gastroenterol. 2004 Aug;44(2):93-8.
5
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.阳离子胰蛋白酶原基因中的信号肽切割位点突变与慢性胰腺炎密切相关。
Gastroenterology. 1999 Jul;117(1):7-10. doi: 10.1016/s0016-5085(99)70543-3.
6
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.非酒精性慢性胰腺炎患者的突变筛查:进一步鉴定胰蛋白酶原变体
Am J Gastroenterol. 2002 Feb;97(2):341-6. doi: 10.1111/j.1572-0241.2002.05467.x.
7
[A case of R122H mutation of cationic trypsinogen gene in a pediatric patient with hereditary pancreatitis complicated by pseudocyst and hemosuccus pancreaticus].
Korean J Gastroenterol. 2005 Feb;45(2):130-6.
8
Mutations of the cationic trypsinogen in hereditary pancreatitis.遗传性胰腺炎中阳离子胰蛋白酶原的突变
Hum Mutat. 1998;12(1):39-43. doi: 10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P.
9
Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis.
Pancreas. 2001 Jan;22(1):18-23. doi: 10.1097/00006676-200101000-00003.
10
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).遗传性胰腺炎中胰蛋白酶原同工型之间的相互作用:阳离子胰蛋白酶(PRSS1)中的E79K突变导致阴离子胰蛋白酶原(PRSS2)的反式激活增加。
Hum Mutat. 2004 Jan;23(1):22-31. doi: 10.1002/humu.10285.

引用本文的文献

1
Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.韩国酒精性慢性胰腺炎患者SPINK1和CFTR基因的突变分析。
Dig Dis Sci. 2005 Oct;50(10):1852-6. doi: 10.1007/s10620-005-2950-9.
2
A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene.一个因PRSS1基因突变而患有遗传性胰腺炎且癌症风险增加的泰裔家庭。
World J Gastroenterol. 2005 Mar 21;11(11):1634-8. doi: 10.3748/wjg.v11.i11.1634.