COMMON GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) VARIANTS FROM THE ITALIAN POPULATION - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION

被引：42
作者：
VIGLIETTO, G
MONTANARO, V
CALABRO, V
VALLONE, D
DURSO, M
PERSICO, MG
BATTISTUZZI, G
机构：
[1] CNR,IST INT GENET & BIOFIS,VIA MARCONI 10,I-80125 NAPLES,ITALY
[2] NAPLES UNIV,DIPARTIMENTO GENET BIOL GEN & MOLEC,I-80138 NAPLES,ITALY
来源：
ANNALS OF HUMAN GENETICS | 1990年 / 54卷
关键词：
D O I：
10.1111/j.1469-1809.1990.tb00355.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
By biochemical characterization of glucose‐6‐phosphate dehydrogenase (G6PD) from the red cells of seventeen subjects of the population of Matera (Southern Italy) we have identified six genetically determined common variants. Among these, G6PD Metaponto and G6PD A(–) Matera had been already fully characterized. We have now found that A(–) Matera is genetically heterogeneous since one of two subjects examined had the two mutations at codons 68 and 126 characteristic of a typical A(–) variant, while the other subject had only the codon 126 mutation. G6PD Pisticci and G6PD Tursi are two new variants whose molecular lesion is not yet known. G6PD Cagliari‐like has biochemical characteristics reminiscent of G6PD Cagliari, isolated in Sardinia, and was found to have the same nucleotide substitution as G6PD Mediterranean. G6PD Montalbano is a new variant, with nearly normal properties, due to a G→A transition which causes an Arg→His amino acid replacement at position 285. Copyright © 1990, Wiley Blackwell. All rights reserved
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页码：1 / 15
页数：15
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