Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients

Citation
E. Pras et al., Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1using historical recombinants in libyan Jewish cystinuria patients, GENOMICS, 60(2), 1999, pp. 248-250
Citations number
9
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENOMICS
ISSN journal
0888-7543 → ACNP
Volume
60
Issue
2
Year of publication
1999
Pages
248 - 250
Database
ISI
SICI code
0888-7543(19990901)60:2<248:RMOTCG>2.0.ZU;2-C
Abstract
Cystinuria is a genetic disease manifested by the development of kidney sto nes. In some patients, the disease is caused by mutations in the SLC3A1 gen e located on chromosome 2p, In others, the disease is caused by a gene that maps to chromosome 19q, but has not yet been cloned. Cystinuria is very co mmon among Jews of Libyan ancestry living in Israel. Previously we have sho wn that the disease-causing gene in Libyan Jews maps to an 8-cM interval on chromosome 19q between the markers D19S409 and D19S208. Several markers fr om chromosome 19q showed strong linkage disequilibrium, and a specific hapl otype was found in more than half of the carrier chromosomes. In this study we have analyzed Libyan Jewish cystinuria families with eight markers from within the interval containing the gene. Seven of these markers showed sig nificant linkage disequilibrium, A common haplotype was found in 16 of the 17 carrier chromosomes. Analysis of historical recombinants placed the gene in a 1.8-Mb interval between the markers D19S430 and D19S874. Two segments of the historical carrier chromosome used to calculate the mutation's age revealed that the disease-causing mutation was introduced into this populat ion 7-16 generations ago. (C) 1999 Academic Press.