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http://purl.uniprot.org/citations/16981266http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16981266http://www.w3.org/2000/01/rdf-schema#comment"

Aim

To verify and expand the known spectrum of serine protease inhibitor Kazal type 1 (SPINK1) gene mutations in chronic pancreatitis.

Methods

DNA extracted from 172 chronic pancreatitis patients was assayed for SPINK1 gene mutations by PCR and DNA sequencing. A control cohort of 90 unrelated healthy individuals was analysed by the same methods for presence of common populational polymorphisms, and frequency of five-loci haplotypes was calculated. Linkages of gene aberrations in single SPINK1 gene copies were analysed by long-distance PCR followed by allele-specific PCR and DNA sequencing.

Results

The most frequent SPINK1 gene mutation N34S was found at a frequency of 6%. Furthermore, we detected the heterozygous intervening sequence (IVS) 3 + 2 T > C mutated gene in 2 German patients and 1 Macedonian chronic pancreatitis patient. In all three SPINK1 gene copies an additional rare base substitution was found: 5'untranslated region (UTR)-215 G > A. Polymorphism analysis revealed that all three affected genes carried the same five-loci haplotype. DNA sequencing of another chronic pancreatitis-related gene PRSS1 (cationic trypsinogen) did not reveal any mutations in these 3 patients.

Conclusion

We found in 3 (2%) of 172 chronic pancreatitis patients an IVS3 + 2 T > C SPINK1 gene mutation and a base substitution 5'UTR-215 G > A in the same gene copy. Most probably the 5'UTR-215 G > A represents a rare polymorphism and not a mutation as previously concluded. Haplotype analysis suggests a common origin of the IVS3 + 2 T > C mutation in these patients."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.org/dc/terms/identifier"doi:10.3748/wjg.v12.i33.5352"xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Schwarzenbach H."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Izbicki J.R."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Kalinin V.N."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Kaifi J.T."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Vashist Y."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Yekebas E.F."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Bogoevski D."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Link B.C."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/author"Sergeyev A.S."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/name"World J Gastroenterol"xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/pages"5352-5356"xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/title"Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients."xsd:string
http://purl.uniprot.org/citations/16981266http://purl.uniprot.org/core/volume"12"xsd:string
http://purl.uniprot.org/citations/16981266http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/16981266
http://purl.uniprot.org/citations/16981266http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/16981266
http://purl.uniprot.org/uniprot/#_A2T2X6-mappedCitation-16981266http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16981266
http://purl.uniprot.org/uniprot/#_A2T2X7-mappedCitation-16981266http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16981266
http://purl.uniprot.org/uniprot/#_P00995-mappedCitation-16981266http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16981266
http://purl.uniprot.org/uniprot/A2T2X7http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16981266
http://purl.uniprot.org/uniprot/P00995http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16981266
http://purl.uniprot.org/uniprot/A2T2X6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16981266
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