Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
| Autor: | Athanasiou, Yiannis, Voskarides, Konstantinos, Chatzikyriakidou, Anthoula L., Ignatiou, Anastasia, Demosthenous, Panayiota, Elia, Avraam, Zavros, Michalis, Georgiou, Ioannis A., Pierides, Alkis M., Constantinou-Deltas, Constantinos D. |
|---|---|
| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 2015 |
| Předmět: |
Male
polymerase chain reaction very elderly DNA Mutational Analysis SLC3A1 gene Polymerase Chain Reaction DNA Resequencing amino acid transporter law.invention Polymorphism (computer science) law middle aged genetics gene mutation cystinuria Child restriction fragment length polymorphism Genetics (clinical) Polymerase chain reaction Aged 80 and over Genetics child clinical article education.field_of_study Greece adult pedigree General Medicine Cystinuria chronic kidney failure Middle Aged Pedigree aged female founder effect Mutation (genetic algorithm) Female amino acid Adult Adolescent Population DNA sequence SLC7A9 gene Greek (people) gene frequency Article consanguinity male medicine heterozygosity Humans human gene SLC7A9 protein human education end stage renal disease Aged business.industry SLC3A1 protein human Single-strand conformation polymorphism school child medicine.disease Amino Acid Transport Systems Neutral adolescent Mutation Amino Acid Transport Systems Basic Kidney Failure Chronic mutation business dna mutational analysis Founder effect |
| Zdroj: | Genetic Testing and Molecular Biomarkers Gent.Test.and Mol.Biomarkers |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2015.0144 |
| Popis: | Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. Methods: Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital patients' records and analytical follow-up of the families. Results and Discussion: We found a total of five mutations in 28 Greek-Cypriot cystinuric patients belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot patients is the SLC3A1-p.T216M, which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 patients are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other patients were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our patients. Only ∼14% of them developed chronic renal failure, and only one reached end-stage renal disease (ESRD). Conclusion: Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients having such a limited number of causative mutations will simplify diagnostics for this population. © Copyright 2015, Mary Ann Liebert, Inc. 19 641 645 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|