In order to explore the nature of glucose-6-phosphate dehydrogenase
(G6PD) deficiency in south-east 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 fragment
of DNA and subsequent digestion by appropriate restriction-enzymes, looking
for the presence of
certain known G6PD mutations. We amplified 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 variants with the
association of a silent mutation 1311
(also known as polymorphic site Bcl I), one G6PD Mediterranean without
this association, four G6PD A−
Val 68 and two G6PD Santamaria and five G6PD Chatham. In a subject with
normal activity
a mutation was found in exon 5, designated as G6PD Sao Borja. This is the
first report on the
molecular analysis of G6PD mutations in Sicily and we have obtained
evidence for four distinct classes of variants.