During the last ten years, molecular biological techniques such as cloning and sequencing and, more recently, polymerase chain reaction (PCR) amplification have led to the identification of the molecular defects responsible for more than fifty glucose-6-phosphate dehydrogenase (G6PD) variants. In this paper, we report the identification of the molecular abnormality underlying the G6PD Ferrara II variant, present in the Po delta area of Northern Italy. Biochemical characterisation shows an enzymatic activity of about 15% of normal (WHO class III), slow electrophoretic mobility, low Km for G6P, high percentage substrate analogue utilisation and a biphasic pH optimum curve. After PCR amplification, non-radioiso-topic single-strand conformation polymorphism analysis carried out for the entire coding region has revealed a mobility shift in exon 8. Nucleotide sequencing has demonstrated a missense 844 G>C mutation, causing an Asp>His amino-acid replacement, known as being responsible for G6PD Seattle, G6PD Modena and G6PD Lodi.

Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant / M.D. Cappellini, F. Martinez Di Montemuros, C. Dotti, D. Tavazzi, G. Fiorelli. - In: HUMAN GENETICS. - ISSN 0340-6717. - 95:4(1995 Apr), pp. 440-442.

Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant

M.D. Cappellini
Primo
;
F. Martinez Di Montemuros
Secondo
;
D. Tavazzi
Penultimo
;
G. Fiorelli
Ultimo
1995

Abstract

During the last ten years, molecular biological techniques such as cloning and sequencing and, more recently, polymerase chain reaction (PCR) amplification have led to the identification of the molecular defects responsible for more than fifty glucose-6-phosphate dehydrogenase (G6PD) variants. In this paper, we report the identification of the molecular abnormality underlying the G6PD Ferrara II variant, present in the Po delta area of Northern Italy. Biochemical characterisation shows an enzymatic activity of about 15% of normal (WHO class III), slow electrophoretic mobility, low Km for G6P, high percentage substrate analogue utilisation and a biphasic pH optimum curve. After PCR amplification, non-radioiso-topic single-strand conformation polymorphism analysis carried out for the entire coding region has revealed a mobility shift in exon 8. Nucleotide sequencing has demonstrated a missense 844 G>C mutation, causing an Asp>His amino-acid replacement, known as being responsible for G6PD Seattle, G6PD Modena and G6PD Lodi.
Adult ; DNA ; Exons ; Glucosephosphate Dehydrogenase ; Glucosephosphate Dehydrogenase Deficiency ; Humans ; Male ; Molecular Biology ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational
Settore MED/09 - Medicina Interna
apr-1995
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/225325
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