Molecular characterization of cystinuria in south-eastern European countries
| Autor: | Marusia Lilova, Alojz Gregoric, Rezan Topaloglu, Katerina Popovska-Jankovic, Esra Baskin, Emilija Golubovic, Dijana Plaseska-Karanfilska, Marjan Saraga, Velibor Tasic, Predrag Miljkovic, Radovan Bogdanovic, Ipek Akil, Alper Soylu, Emilija Sukarova Stefanovska, Snezana Pavicevic |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Genotype Urology Population Cystine Prenatal diagnosis Biology medicine.disease_cause chemistry.chemical_compound medicine Humans cystinuria south European countries Child education Gene Genetics Mutation education.field_of_study Cystinuria medicine.disease Molecular biology Europe Amino Acid Transport Systems Neutral Dibasic Amino Acids chemistry Child Preschool Amino Acid Transport Systems Basic Female Restriction fragment length polymorphism |
| Zdroj: | Urolithiasis. 41:21-30 |
| ISSN: | 2194-7236 2194-7228 |
| Popis: | 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 SLC3A1 gene, and 93 in SLC7A9 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 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c. 1048_1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L 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. |
| Databáze: | OpenAIRE |
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