Naslov
Molecular Characterization of Glucose-6- phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype- phenotype Correlation

Autori
Papazovska Cherepnalkovski, Anet ; Zemunik, Tatijana ; Glamočanin, Sofijanka ; Piperkova, Katica ; Gunjača, Ivana ; Kocheva, Svetlana ; Coneska Jovanova, Biljana ; Krželj, Vjekoslav

Izvornik
Medical Archives (0350-199X) 69 (2015); 284-288

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
G6PD defiiency; molecular characterization; genotype-phenotype correlation; Republic of Macedonia

Sažetak
Introduction: 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. Aim: 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. Patients and methods: 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 fist screened for the Mediterranean mutation, and subsequently for the Seattle mutation. Mutations were detected using PCR amplification and appropriate restriction endonuclease cleavage. Results: 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 fist study concerned with molecular aspects of the G6PD deficiency in R. Macedonia. Conclusion: This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA