Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.

ABSTRACT:

Background and aims

Two common haplotypes of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been shown to increase the risk for chronic pancreatitis. A haplotype comprising the c.101A>G (p.N34S) missense variant and four intronic alterations has been found worldwide, whereas a second haplotype consisting of the c.-215G>A promoter variant and the c.194+2T>C intronic alteration has been observed frequently in Japan.

Methods

In the present study, the functional significance of the intronic variants in the pathogenic SPINK1 haplotypes was examined by utilising minigenes, which harbour individual introns placed in the appropriate context of the full-length SPINK1 cDNA. Cells transfected with the SPINK1 minigenes secrete active trypsin inhibitor, thereby allowing ev

SUBMITTER: Kereszturi E 

PROVIDER: S-EPMC2677899 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature