Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro J M, Harel D, Katz G, Liberman U, Pras M
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892-1820, USA.
Am J Hum Genet. 1995 Jun;56(6):1297-303.
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.
胱氨酸尿症是一种常染色体隐性疾病，其特征为肾结石的形成。在2号染色体上的SLC3A1氨基酸转运基因被鉴定出来的指导下，我们最近在17个家庭中确定了胱氨酸尿症与2号染色体短臂的遗传连锁关系，未发现基因座异质性的证据。其他作者也独立鉴定出胱氨酸尿症患者中SLC3A1的错义突变。在本报告中，我们描述了该基因另外四个与胱氨酸尿症相关的突变：一个移码突变、一个缺失突变、一个导致关键氨基酸改变的颠换突变和一个无义突变。在所检测的全部8条阿什肯纳兹犹太携带者染色体中均发现了后者的终止密码子。本报告使该基因中与疾病相关的突变数量增至10个。我们还评估了这些突变在我们的17个胱氨酸尿症家庭中的频率。
