Document Detail


Multisite mutations of the PRSS1 gene in a Chinese patient with chronic pancreatitis.
MedLine Citation:
PMID:  18522894     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Qi-Cai Liu; Feng Gao; Zu-Jian Cheng; Qi-Shui Ou
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hepatobiliary & pancreatic diseases international : HBPD INT     Volume:  7     ISSN:  1499-3872     ISO Abbreviation:  HBPD INT     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-04     Completed Date:  2008-11-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101151457     Medline TA:  Hepatobiliary Pancreat Dis Int     Country:  China    
Other Details:
Languages:  eng     Pagination:  331-2     Citation Subset:  IM    
Affiliation:
Department of Laboratory Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. lqc673@yahoo.com.cn
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MeSH Terms
Descriptor/Qualifier:
Adult
China
DNA / genetics*
Female
Genetic Predisposition to Disease
Humans
Mutation*
Pancreatitis, Chronic / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic
Trypsinogen / genetics*
Chemical
Reg. No./Substance:
9002-08-8/Trypsinogen; 9007-49-2/DNA; EC 3.4.21.4/PRSS1 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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