[−215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site

Total RNA was isolated from the biopsy specimen of the stomach, and the entire coding region of the serine protease inhibitor Kazal type 1 (SPINK1) gene was amplified by reverse transcription polymerase chain reaction, followed by 2 % agarose gel electrophoresis. Of note, the daughter of patient A c...

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Bibliographic Details
Published in:Gut 2006-08, Vol.55 (8), p.1214-1214
Main Authors: Kume, K, Masamune, A, Kikuta, K, Shimosegawa, T
Format: Article
Language:English
Subjects:
Aged
Amino acids
Binding Sites - genetics
Carrier Proteins - genetics
exon skipping
Female
Genes
Humans
Letters
Male
Middle Aged
Mutation
Pancreas
pancreatic secretory trypsin inhibitor
pancreatitis
Pancreatitis, Chronic - genetics
serine protease inhibitor Kazal type 1
trypsin
Trypsin - metabolism
Trypsin Inhibitor, Kazal Pancreatic
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Description
Summary:Total RNA was isolated from the biopsy specimen of the stomach, and the entire coding region of the serine protease inhibitor Kazal type 1 (SPINK1) gene was amplified by reverse transcription polymerase chain reaction, followed by 2 % agarose gel electrophoresis. Of note, the daughter of patient A carrying the heterozygous [-215G>A; IVS3+2T>C] mutation has not yet developed CP. Because this mutation has not been found in healthy controls, 7 it is of interest to see whether she will develop CP in the future.
ISSN:0017-5749
1468-3288
DOI:10.1136/gut.2006.095752