LYSINURIC PROTEIN INTOLERANCE (LPI) GENE MAPS TO THE LONG ARM OF CHROMOSOME-14

Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hy perammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinati ons placed the locus between framework markers D14S72 and MYH7, a 10-c M interval in which the markers D14S742, D14S50, D14S283, and TCRA sho wed no recombinations with the phenotype. The phenotype was in highly significant linkage disequilibrium with markers D14S50, D14S283, and T CRA. The strongest allelic association obtained with marker TCRA, resu lting in a P-excess value of .98, suggests that the LPI gene locus lie s in close proximity to this marker, probably within a distance of <10 0 kb.