Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case
نویسندگان
چکیده
منابع مشابه
Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case
Familial aggregation of CP suggests genetic factors for disease without definitive mode of inheritance. The hypothesized primary putative gene for CP includes SPINK1, CTSB, CTRC, PRSS1 and CFTR. These genes interact with each other and exhibit a variable phenotype in patients. The present report describes a male adult aged 42 years with a complaint of severe recurrent pain in the abdomen and we...
متن کاملGenetic mutations in SPINK1, CFTR, CTRC in acute pancreatitis
Background. The explanation of the ultimate causes of acute and chronic pancreatitis is
متن کاملGenetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
BACKGROUND Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis an...
متن کاملMutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.
BACKGROUND/AIMS A relation between some genetic mutations and chronic pancreatitis (CP) has been reported. However, the relation of genetic mutation to alcoholic CP (ACP) and idiopathic CP (ICP) still remains controversial. In this study, we investigated the prevalence of protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1) SPINK1 and cystic fibrosis transmembrane conduct...
متن کاملCFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
OBJECTIVE In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes. DESIGN 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) b...
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ژورنال
عنوان ژورنال: Gene Technology
سال: 2014
ISSN: 2329-6682
DOI: 10.4172/2329-6682.1000116