title: Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
abstract: Lysinuric protein intolerance is a recessively inherited metabolic disease characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Linkage analysis and further linkage disequilibrium in Finnish LPI families have earlier assigned LPI gene locus within or in close vicinity of T-cell receptor alpha/delta gene cluster on chromosome site 14q11. In the present work we have characterized the linkage defined LPI region using RH-mapping and fiber-FISH and searched the LPI gene from the reported sequence of the T-cell receptor gene.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland. tuilau@utu.fi
authors.forename: T
authors.initials: T
authors.lastname: Lauteala
authors.forename: J
authors.initials: J
authors.lastname: Mykkänen
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: J
authors.initials: J
authors.lastname: Aaltonen
authors.forename: P
authors.initials: P
authors.lastname: Paavola
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
authors.forename: O
authors.initials: O
authors.lastname: Simell
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008239:Lysine / Q000378:metabolism* / Q000652:urine; D005810:Multigene Family; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*
chemical_list: D011948:Receptors, Antigen, T-Cell; D008239:Lysine