Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1

Lídia Feliubadaló; Luigi Bisceglia; Mariona Font; Luca Dello Strologo; Ercole Beccia; Mine Arslan-Kirchner; Beat Steinmann; Leopoldo Zelante; Xavier Estivill; Antonio Zorzano; Manuel Palacín; Paolo Gasparini; Virginia Nunes

doi:10.1006/geno.1999.5928

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1

Lídia Feliubadaló, Luigi Bisceglia, Mariona Font, Luca Dello Strologo, Ercole Beccia, Mine Arslan-Kirchner, Beat Steinmann, Leopoldo Zelante, Xavier Estivill, Antonio Zorzano, Manuel Palacín, Paolo Gasparini, Virginia Nunes

Research output: Contribution to journal › Article

Abstract

Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is not responsible for types II or III. Recently the type III locus (CSNU3) was mapped by two groups to overlapping 6-Mb regions on chromosome 19q. In the present study, we restrict the critical region for non-type I cystinuria to 2.4 Mb by recombination analysis in Italian, German, and Spanish families. For this purpose, we have used the microsatellite markers described in the region plus new microsatellites that we have developed. Our results locate the non-type I cystinuria gene in an interval flanked by the markers C13 and D19S587, which are about 2.8 cM apart.

Original language	English
Pages (from-to)	362-365
Number of pages	4
Journal	Genomics
Volume	60
Issue number	3
DOIs	https://doi.org/10.1006/geno.1999.5928
Publication status	Published - Sep 15 1999

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Genetics

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Feliubadaló, L., Bisceglia, L., Font, M., Dello Strologo, L., Beccia, E., Arslan-Kirchner, M., Steinmann, B., Zelante, L., Estivill, X., Zorzano, A., Palacín, M., Gasparini, P., & Nunes, V. (1999). Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1. Genomics, 60(3), 362-365. https://doi.org/10.1006/geno.1999.5928

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1. / Feliubadaló, Lídia; Bisceglia, Luigi; Font, Mariona; Dello Strologo, Luca; Beccia, Ercole; Arslan-Kirchner, Mine; Steinmann, Beat; Zelante, Leopoldo; Estivill, Xavier; Zorzano, Antonio; Palacín, Manuel; Gasparini, Paolo; Nunes, Virginia.

In: Genomics, Vol. 60, No. 3, 15.09.1999, p. 362-365.

Research output: Contribution to journal › Article

Feliubadaló, L, Bisceglia, L, Font, M, Dello Strologo, L, Beccia, E, Arslan-Kirchner, M, Steinmann, B, Zelante, L, Estivill, X, Zorzano, A, Palacín, M, Gasparini, P & Nunes, V 1999, 'Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1', Genomics, vol. 60, no. 3, pp. 362-365. https://doi.org/10.1006/geno.1999.5928

Feliubadaló, Lídia ; Bisceglia, Luigi ; Font, Mariona ; Dello Strologo, Luca ; Beccia, Ercole ; Arslan-Kirchner, Mine ; Steinmann, Beat ; Zelante, Leopoldo ; Estivill, Xavier ; Zorzano, Antonio ; Palacín, Manuel ; Gasparini, Paolo ; Nunes, Virginia. / Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1. In: Genomics. 1999 ; Vol. 60, No. 3. pp. 362-365.

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abstract = "Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is not responsible for types II or III. Recently the type III locus (CSNU3) was mapped by two groups to overlapping 6-Mb regions on chromosome 19q. In the present study, we restrict the critical region for non-type I cystinuria to 2.4 Mb by recombination analysis in Italian, German, and Spanish families. For this purpose, we have used the microsatellite markers described in the region plus new microsatellites that we have developed. Our results locate the non-type I cystinuria gene in an interval flanked by the markers C13 and D19S587, which are about 2.8 cM apart.",

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AU - Zelante, Leopoldo

AU - Estivill, Xavier

AU - Zorzano, Antonio

AU - Palacín, Manuel

AU - Gasparini, Paolo

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AB - Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is not responsible for types II or III. Recently the type III locus (CSNU3) was mapped by two groups to overlapping 6-Mb regions on chromosome 19q. In the present study, we restrict the critical region for non-type I cystinuria to 2.4 Mb by recombination analysis in Italian, German, and Spanish families. For this purpose, we have used the microsatellite markers described in the region plus new microsatellites that we have developed. Our results locate the non-type I cystinuria gene in an interval flanked by the markers C13 and D19S587, which are about 2.8 cM apart.

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10.1006/geno.1999.5928