Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

Robert Wartenfeld, Eliahu Golomb, Giora Katz, Sherri J. Bale, Boleslaw Goldman, Mordechai Pras, Daniel L. Kastner, Elon Pras

Research output: Contribution to journalArticlepeer-review

Abstract

Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is located on the short arm of chromosome 2 and encodes a renal/intestinal transporter for cystine and the dibasic amino acids. In Israel cystinuria is especially common among Jews of Libyan origin. After excluding SLC3A1 as the disease-causing gene in Libyan Jewish patients, we performed a genomewide search that shows that the Libyan Jewish cystinuria gene maps to the long arm of chromosome 19. Significant linkage was obtained for seven chromosome 19 markers. A maximal LOD score of 9.22 was obtained with the marker D195882. Multipoint data and recombination analysis placed the gene in an 8-cM interval between the markers D195409 and D19S208. Significant linkage disequilibrium was observed for alleles of four markers, and a specific haplotype comprising the markers D19S225, D19S208, D19S220, and D19S422 was found in 11 of 17 carrier chromosomes, versus 1 of 58 Libyan Jewish noncarrier chromosomes.

Original languageEnglish
Pages (from-to)617-624
Number of pages8
JournalAmerican Journal of Human Genetics
Volume60
Issue number3
StatePublished - Mar 1997
Externally publishedYes

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