title: Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
abstract: Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the locus between framework markers D14S72 and MYH7, a 10-cM interval in which the markers D14S742, D14S50, D14S283, and TCRA showed no recombinations with the phenotype. The phenotype was in highly significant linkage disequilibrium with markers D14S50, D14S283, and TCRA. The strongest allelic association obtained with marker TCRA, resulting in a P(excess) value of .98, suggests that the LPI gene locus lies in close proximity to this marker, probably within a distance of < 100 kb.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Lauteala
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
authors.forename: J
authors.initials: J
authors.lastname: Mykkänen
authors.forename: J
authors.initials: J
authors.lastname: Simell
authors.forename: M
authors.initials: M
authors.lastname: Lukkarinen
authors.forename: O
authors.initials: O
authors.lastname: Simell
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001120:Arginine / Q000378:metabolism; D002648:Child; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D016001:Confidence Intervals; D005260:Female; D005387:Finland; D005819:Genetic Markers; D006801:Humans; D015810:Linkage Disequilibrium; D008239:Lysine / Q000378:metabolism*; D008297:Male; D018895:Microsatellite Repeats; D009952:Ornithine / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype
chemical_list: D005819:Genetic Markers; D001120:Arginine; D009952:Ornithine; D008239:Lysine