title: DNA polymorphisms of lipase related genes.
abstract: We previously determined sequenced the PNLIP gene encoding pancreatic lipase in cell lines of subjects with clinical deficiency of pancreatic lipase (MIM 246600) and found no putative disease-causing mutations. As part of the ongoing analysis of the genomic DNA of these subjects, we now report the development of genomic amplification primers to sequence the coding regions of CLPS, CEL, PLRP1, and PLRP2, encoding pancreatic co-lipase, carboxyl-ester lipase, and pancreatic-lipase-related proteins-1 and -2, respectively. Whereas we found no putative disease-causing missense or nonsense mutations in these samples, we discovered a total of 13 common polymorphisms (12 single nucleotide polymorphisms) in these four genes. Genotypes of these polymorphisms may be useful in future association analyses.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, N6A 5K8, Canada.
authors.forename: Henian
authors.initials: H
authors.lastname: Cao
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, N6A 5K8, Canada. hegele@robarts.ca.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D003089:Colipases / Q000235:genetics*; D006801:Humans; D008049:Lipase / Q000172:deficiency / Q000235:genetics*; D010179:Pancreas / Q000201:enzymology; D010182:Pancreatic Diseases / Q000235:genetics; D011110:Polymorphism, Genetic
chemical_list: D003089:Colipases; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; D008049:Lipase; C075988:pancreatic lipase related protein 2; C075987:pancreatic lipase-related protein 1