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Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations

Publication Type : Journal Article

Thematic Areas : Medical Sciences

Publisher : Indian Journal of Gastroenterology

Source : Indian Journal of Gastroenterology, Volume 28, Number 2, p.68-71 (2009)

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Keywords : abdominal pain, adolescent, adult, article, Calcinosis, calcium sensing receptor, calcium sensing receptor gene, Carrier Proteins, CFTR gene, child, Chronic, chronic pancreatitis, clinical article, Cystic Fibrosis Transmembrane Conductance Regulator, diabetes mellitus, disease association, DNA, female, gene, gene mutation, Genetic Association Studies, Genetic Predisposition to Disease, genotype phenotype correlation, human, Humans, India, male, Mutation, mutational analysis, nucleotide sequence, pancreas pseudocyst, pancreatitis, pathogenesis, polymerase chain reaction, serine protease inhibitor kazal type 1, serine proteinase inhibitor, sex difference, SPINK 1 gene, steatorrhea, transmembrane conductance regulator, tropical disease, unclassified drug, Young Adult

Campus : Kochi

School : School of Medicine

Department : Gastroenterology

Year : 2009

Abstract : The etiopathogenesis of tropical chronic pancreatitis (TCP) remains unclear. Malnutrition, dietary toxins like cyanogens in cassava and micronutrient deficiency are proposed factors. The description and characterization of genetic factors in TCP has added a new dimension to the understanding of pathogenesis of the disease. However, there is sparse data on the association of TCP with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We report 8 patients of TCP with CFTR gene mutations, including one with a novel mutation, and describe the clinical profile of these patients. Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP. © Indian Society of Gastroenterology 2009.

Cite this Research Publication : Ga Rajesh, Elango, E. Mb, Vidya, Va, and Balakrishnan, Va, “Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations”, Indian Journal of Gastroenterology, vol. 28, pp. 68-71, 2009.

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