A1 Journal article – refereed

Genetic homogeneity of lysinuric protein intolerance




List of Authors: Lauteala T, Mykkanen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P

Publisher: STOCKTON PRESS

Publication year: 1998

Journal: European Journal of Human Genetics

Journal name in source: EUROPEAN JOURNAL OF HUMAN GENETICS

Journal acronym: EUR J HUM GENET

Volume number: 6

Issue number: 6

Number of pages: 4

ISSN: 1018-4813

DOI: http://dx.doi.org/10.1038/sj.ejhg.5200236


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.



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