TY - JOUR
T1 - Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13 1
AU - Feliubadaló, Lídia
AU - Bisceglia, Luigi
AU - Font, Mariona
AU - Dello Strologo, Luca
AU - Beccia, Ercole
AU - Arslan-Kirchner, Mine
AU - Steinmann, Beat
AU - Zelante, Leopoldo
AU - Estivill, Xavier
AU - Zorzano, Antonio
AU - Palacín, Manuel
AU - Gasparini, Paolo
AU - Nunes, Virginia
PY - 1999/9/15
Y1 - 1999/9/15
N2 - 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.
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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U2 - 10.1006/geno.1999.5928
DO - 10.1006/geno.1999.5928
M3 - Article
C2 - 10493835
AN - SCOPUS:0033567939
VL - 60
SP - 362
EP - 365
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 3
ER -