Multisite mutations of the PRSS1 gene in a Chinese patient with chronic pancreatitis.
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.


CONCLUSIONS
These are novel mutations in PRSS1.
Department of Laboratory Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. lqc673@yahoo.com.cn
Qi-Cai
QC
Liu
Feng
F
Gao
Zu-Jian
ZJ
Cheng
Qi-Shui
QS
Ou
D000328:Adult; D002681:China; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
D014362:Trypsinogen; D004247:DNA; C489303:PRSS1 protein, human; D014357:Trypsin