Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.

ABSTRACT:

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

SUBMITTER: Kalinin VN 

PROVIDER: S-EPMC4088203 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature