In silico prioritization and further functional characterization of SPINK1 intronic variants.

ABSTRACT:

Background

SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of transfected HEK293T cells, we concluded that 24 studied SPINK1 intronic variants were not of pathological significance, the sole exceptions being two canonical splice site variants (i.e., c.87 + 1G > A and c.194 + 2T > C). Herein, we employed the splicing prediction tools included within the Alamut software suite to prioritize the 'non-pathological' SPINK1 intronic variants for further quantitative RT-PCR analysis.

Results

Although our results demonstrated the utility of in silico predictio

SUBMITTER: Zou WB 

PROVIDER: S-EPMC5418720 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature