Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene
نویسندگان
چکیده
منابع مشابه
PATHOBIOCHEMISTRY OF PANCREATIC SECRETORY TRYPSIN INHIBITOR (SPINK1) Extract of PhD dissertation
متن کامل
From acute to chronic pancreatitis: the role of mutations in the pancreatic secretory trypsin inhibitor gene.
Pancreatic secretory trypsin inhibitor (PSTI) is a potent natural inhibitor of trypsin. We proposed the hypothesis that, if the function of the PSTI is impaired by its genetic mutation, trypsin may easily promote autodigestion causing pancreatitis and we performed a mutational analysis of the PSTI gene in patients with pancreatitis. Two exonic mutations (N34S and R67C) were thought to be associ...
متن کاملMutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
Pancreatitis is a global health care problem with varied aetiologies. Alcoholism is responsible in the majority of patients while other causes, such as heredity, gallstones, hyperlipidaemia, hypercalcaemia, and idiopathic pancreatitis, are relatively rare. 2 The causal factor in 20-30% of such cases is still not known and they fall into the category of idiopathic chronic pancreatitis (ICP). 2 A...
متن کاملLETTER TO JMG Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
Pancreatitis is a global health care problem with varied aetiologies. Alcoholism is responsible in the majority of patients while other causes, such as heredity, gallstones, hyperlipidaemia, hypercalcaemia, and idiopathic pancreatitis, are relatively rare. 2 The causal factor in 20-30% of such cases is still not known and they fall into the category of idiopathic chronic pancreatitis (ICP). 2 A...
متن کاملPancreatic secretory trypsin inhibitor in gastrointestinal mucosa and gastric juice.
We studied the distribution of pancreatic secretory trypsin inhibitor (PSTI) in the epithelia of the gastrointestinal tract and determined whether PSTI is secreted into gastric juice. PSTI was measured by a specific radioimmunoassay in biopsy specimens taken from the upper (n = 8) and lower (n = 7) gastrointestinal tract of patients with normal endoscopies. PSTI was present in the stomach, smal...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2006
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201684