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.

journal_name

Am J Hum Genet

authors

Lauteala T,Sistonen P,Savontaus ML,Mykkänen J,Simell J,Lukkarinen M,Simell O,Aula P

doi

10.1086/515457

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

1479-86

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)64241-4

journal_volume

60

pub_type

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