Molecular characterization of cystinuria in south-eastern European countries.

[cystinuria]

Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine . So far , more than 128 mutations in SLC 3 A 1 gene , and 93 in SLC 7 A 9 gene have been described as a cause of cystinuria . We present a molecular characterization of the cystinuria in 47 unrelated south -east European families . The molecular methodology included direct sequencing , single strand conformational polymorphism , and restriction fragment length polymorphism . A total of 93 (94 .9 Â %) out of 98 unrelated cystinuric chromosomes have been characterized . Mutations in SLC 3 A 1 gene account for 64 .3 Â % and in SLC 7 A 9 gene for 30 .6 Â % of the cystinuric chromosomes . Ten different mutations in SLC 3 A 1 gene were found , and two of them were novel (C 2 42 R and L 573 X ), while in SLC 7 A 9 gene seven mutations were found , of which three were novel (G 73 R , V 375 I and c .1048 _1051 delACTC ). The most common mutations in this study were T 216 M (24 .5 Â %), M 467 T (16 .3 Â %) and R 365 L (11 .2 Â %) in SLC 3 A 1 and G 105 R (21 .4 Â %) in SLC 7 A 9 gene . A population specificity of cystinuria mutations was observed ; T 216 M mutation was the only mutation present among Gypsies , G 105 R was the most common mutation among Albanians and Macedonians , and R 365 L among Serbs . The results of this study allowed introduction of rapid , simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families .

Diseases
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Diseases presenting "dibasic amino acids in the proximal renal tubules and small intestine" symptom

cystinuria

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