Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1

Luigi Bisceglia, María Julia Calonge, Antonio Totaro, Lidia Feliubadaló, Salvatore Melchionda, Judith García, Xavier Testar, Michele Gallucci, Alberto Ponzone, Lepoldo Zelante, Antonio Zorzano, Xavier P. Estivill, Paolo Gasparini, Virginia Nunes, Manuel Palacín

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Abstract

Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes (I, II, and III) have been described. An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. Mutational and linkage analysis demonstrated the presence of genetic heterogeneity in which the SLC3A1 gene is responsible for type I cystinuria but not for type II or type III. In this study, we report the identification of the cystinuria type III locus on the long arm of chromosome 19 (19q13.1), obtained after a genomewide search. Pairwise linkage analysis in a series of type III or type II families previously excluded from linkage to the cystinuria type I locus (SLC3A1 gene) revealed a significant maximum LOD score (Z(max)) of 13.11 at a maximum recombination fraction (θ(max)) of .00, with marker D19S225. Multipoint linkage analysis performed with the use of additional markers from the region placed the cystinuria type III locus between D19S414 and D19S220. Preliminary data on type II families also seem to place the disease locus for this rare type of cystinuria at 19q13.1 (significant Z(max) = 3.11 at θ(max) of .00, with marker D19S225).

Original languageEnglish
Pages (from-to)611-616
Number of pages6
JournalAmerican Journal of Human Genetics
Volume60
Issue number3
Publication statusPublished - Mar 1997
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Bisceglia, L., Calonge, M. J., Totaro, A., Feliubadaló, L., Melchionda, S., García, J., Testar, X., Gallucci, M., Ponzone, A., Zelante, L., Zorzano, A., Estivill, X. P., Gasparini, P., Nunes, V., & Palacín, M. (1997). Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. American Journal of Human Genetics, 60(3), 611-616.