title: Genetic homogeneity of lysinuric protein intolerance.
abstract: Lysinuric protein intolerance (LPI) is an autosomal recessive disorder in which transport of the cationic amino acids lysine, arginine and ornithine is defective at the basolateral membrane of the epithelial cells in the intestine and renal tubules. LPI is unusually common in Finland, but patients have been described on all continents. Linkage analysis in Finnish LPI families recently assigned the LPI gene locus to a 10 cM interval between markers D14S72 and MYH7 on the long arm of chromosome 14. In the present study linkage analysis of LPI families from six different non-Finnish populations strongly suggests genetic homogeneity in LPI. Peak lod scores were obtained at the chromosomal area between D14S72 and MYH7 with the same markers as in the Finnish families. The non-Finnish families showed no linkage disequilibrium except in an Italian family cluster, whereas strong allelic association in the Finnish families implies that LPI in Finland is caused by a founder mutation.
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: M P
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
authors.forename: O
authors.initials: O
authors.lastname: Simell
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
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; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008239:Lysine / Q000652:urine*; D011995:Recombination, Genetic
chemical_list: D008239:Lysine