Molecular analysis of glucose-6-phosphate dehydrogenase deficiency in families from the Republic of Macedonia and correlation with phenotype. (CROSBI ID 629037)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Papazovska Cherepnalkovski, Anet ; Krzelj, Vjekoslav ; Glamocanin, Sofijanka ; Piperkova, Katica ; Zemunik, Tatijana ; Kocheva, Svetlana ; Coneska Jovanova, Biljana ; Aluloska, Biljana ; Zdraveska Nikolina
engleski
Molecular analysis of glucose-6-phosphate dehydrogenase deficiency in families from the Republic of Macedonia and correlation with phenotype.
G6PD deficiency is the most common enzymopathy affecting more than 400 million people worldwide.More than 400 enzyme variants have been described based on their biochemical properties and grouped into five classes. Molecular analysis of the G6PD gene identified 191 mutations or combination of mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area. The aim of our study was to perform molecular analysis of G6PD deficiency in families from the Republic of Macedonia and correlate the findings to clinical presentation. Six patients and seven other family members were selected for genetic analysis, the selection procedure involved clinical and laboratory evaluation as well as G6PD quantitative spectrophotometric 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 hemizygotes and 3 heterozygous carriers for G6PD Mediterranean were detected. None of the patients tested positive for G6PD Seattle mutation. All G6PD deficient patients from this group showed clinical picture of hemolysis, and in 66.6% neonatal jaundice was confirmed based on history data. This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved.
G6PD deficiency; gene mutations; Republic of Macedonia
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
170-171.
2015.
objavljeno
Podaci o matičnoj publikaciji
Zbornik radova 6. Kongres udruženja pedijatara Makedonije. Struga, 8-11. listopada 2015.
Sofijanova, Aspazija
Struga: Udrženje pedijatara Makedonije
Podaci o skupu
6. Kongres udruženja pedijatara Makedonije
predavanje
08.10.2015-11.10.2015
Struga, Sjeverna Makedonija