Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
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.
Feliubadaló
L
L
Centre de Genètica Mèdica i Molecular-IRO, Hospital Duran i Reynals, Autovia de Castelldefels, Km 2.7, L'Hospitalet de Llobregat, Barcelona, E-08907, Spain.
Bisceglia
L
L
Font
M
M
Dello Strologo
L
L
Beccia
E
E
Arslan-Kirchner
M
M
Steinmann
B
B
Zelante
L
L
Estivill
X
X
Zorzano
A
A
Palacín
M
M
Gasparini
P
P
Nunes
V
V
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D011995:Recombination, Genetic
D005819:Genetic Markers; D026901:Membrane Transport Proteins