Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

ABSTRACT:

Background/aims

The purpose of this study was to identify the spectrum and frequency of pathogenic variants as well as the clinical and genetic insight of hereditary chronic pancreatitis in Pakistani children.

Materials and methods

The deoxyribonucleic acid of affected probands of 44 unrelated Pakistani families, having hereditary chronic pancreatitis-affected children, were subjected to massive parallel sequencing for candidate reported genes (SPINK1, PRSS1, CFTR, CPA1, CTRC, CBS, AGL, PHKB, and LPL). Data were analyzed using different bioinformatics tools for the variants and in-silico analysis. All the identified variants were validated by direct sequencing of the targeted exons in the probands and their parents.

Results

There were 50 patients included in this stud

SUBMITTER: Cheema HA 

PROVIDER: S-EPMC10645277 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature