1. Mutations in the SLC3A1 transporter gene in cystinuria.
- Author
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Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, and Pras M
- Subjects
- Americas ethnology, Base Sequence, Biological Transport, Chromosomes, Human, Pair 2 genetics, Europe ethnology, Female, Gene Frequency, Genetic Testing, Genome, Human, Heterozygote, Humans, Iran ethnology, Israel, Jews genetics, Male, Molecular Sequence Data, Pedigree, Sequence Analysis, DNA, White People genetics, Yemen ethnology, Amino Acid Transport Systems, Basic, Amino Acids metabolism, Carrier Proteins genetics, Cystinuria genetics, Membrane Glycoproteins genetics, Mutation
- Abstract
Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this report we describe four additional cystinuria-associated mutations in this gene: a frameshift, a deletion, a transversion inducing a critical amino acid change, and a nonsense mutation. The latter stop codon was found in all of eight Ashkenazi Jewish carrier chromosomes examined. This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families.
- Published
- 1995