Genetic homogeneity of lysinuric protein intolerance

Tuija Lauteala, Juha Mykkänen, Maria Pia Sperandeo, Paolo Gasparini, Marja Liisa Savontaus, Olli Simell, Generoso Andria, Gianfranco Sebastio, Pentti Aula

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)612-615
Number of pages4
JournalEuropean Journal of Human Genetics
Volume6
Issue number6
Publication statusPublished - Nov 1998

Keywords

  • Genetic homogeneity
  • Haplotype analysis
  • Linkage analysis
  • Lysinuric protein intolerance

ASJC Scopus subject areas

  • Genetics(clinical)

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