GENETIC-HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCYIN SOUTH-EAST SICILY

In order to explore the nature of glucose-6-phosphate dehydrogenase (G 6PD) deficiency in southeast Sicily, we have analysed the G6PD gene in 25 unrelated males with abnormal G6PD activity and/or electrophoretic mobility, by using the analysis of the appropriate PCR-amplified frag ment of DNA and subsequent digestion by appropriate restriction-enzyme s, looking for the presence of certain known G6PD mutations. We amplif ied the entire G6PD coding sequence into eight fragments, followed by single-strand conformation polymorphism (SSCP) analysis and sequencing of those individual fragments that were found to be abnormal by SSCP. Through these methods we found a total of twelve G6PD Mediterranean v ariants with the association of a silent mutation 1311 (also known as polymorphic site Eel I), one G6PD Mediterranean without this associati on, four G6PD A(-) Val 68 and two G6PD Santamaria and five G6PD Chatha m. In a subject with normal activity a mutation was found in exon 5, d esignated as G6PD Sao Borja. This is the first report on the molecular analysis of G6PD mutations in Sicily and we have obtained evidence fo r four distinct classes of variants.