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.
| Original language | English |
|---|---|
| Pages (from-to) | 440-442 |
| Number of pages | 3 |
| Journal | Human Genetics |
| Volume | 95 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1995 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant. / Cappellini, Maria Domenica; di Montemuros, Franco Martinez; Dotti, Chiara; Tavazzi, Dario; Fiorelli, Gemino.
In: Human Genetics, Vol. 95, No. 4, 04.1995, p. 440-442.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant
AU - Cappellini, Maria Domenica
AU - di Montemuros, Franco Martinez
AU - Dotti, Chiara
AU - Tavazzi, Dario
AU - Fiorelli, Gemino
PY - 1995/4
Y1 - 1995/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028956065&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028956065&partnerID=8YFLogxK
U2 - 10.1007/BF00208972
DO - 10.1007/BF00208972
M3 - Article
C2 - 7705842
AN - SCOPUS:0028956065
VL - 95
SP - 440
EP - 442
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -