Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation
| Autor: | Svetlana Kocheva, Sofijanka Glamocanin, Katica Piperkova, Anet Papazovska Cherepnalkovski, Vjekoslav Krzelj, Biljana Coneska Jovanova, Ivana Gunjača, Tatijana Zemunik |
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| Rok vydání: | 2015 |
| Předmět: |
Genetics
Mutation education.field_of_study Population General Medicine Biology Jaundice medicine.disease medicine.disease_cause law.invention Restriction enzyme Hemizygote law hemic and lymphatic diseases medicine Missense mutation medicine.symptom education Polymerase chain reaction Glucose-6-phosphate dehydrogenase deficiency |
| Zdroj: | Medical Archives. 69:284 |
| ISSN: | 0350-199X |
| DOI: | 10.5455/medarh.2015.69.284-288 |
| Popis: | Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area.The aim of our study was to perform molecular characterization of G6PD deficiency in families from the Republic of Macedonia and correlate the findings to disease phenotype.Six patients and seven other family members were selected for genetic characterization, the selection procedure involved clinical evaluation and G6PD quantitative testing. All patients were first screened for the Mediterranean mutation, and subsequently for the Seattle mutation. Mutations were detected using PCR amplification and appropriate restriction endonuclease cleavage.Four hemizygote and 3 heterozygous carriers for G6PD Mediterranean were detected. All G6PD deficient patients from this group showed clinical picture of hemolysis, and in 66.6% neonatal jaundice was confirmed based on history data. To our knowledge, this is the first study concerned with molecular aspects of the G6PD deficiency in R. Macedonia.This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved. |
| Databáze: | OpenAIRE |
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