Common glucose‐6‐phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization
Common glucose‐6‐phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization
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意大利人群中常见的葡萄糖-6-磷酸脱氢酶 (G6PD) 变体：生化和分子特征
DOI：
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发表时间：
1990
影响因子：
1.9
通讯作者：
G. Battistuzzi
中科院分区：
文献类型：
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作者：
Giuseppe Viglietto;V. Montanaro;Viola Calabrò;Daniela Vallone;Michele D'Urso;M. Persico;G. Battistuzzi
通过对来自Matera（意大利南部）人群的17名受试者的红细胞葡萄糖-6-磷酸脱氢酶（G6 PD）进行生化表征，我们确定了6种遗传决定的常见变体。其中，G6 PD Metaponto和G6 PD A（-）Matera已被充分表征。我们现在已经发现A（-）Matera是遗传异质性的，因为检查的两个受试者中的一个具有典型A（-）变体特征的密码子68和126处的两个突变，而另一个受试者仅具有密码子126突变。G6 PD皮斯蒂奇和G6 PD图尔西是两个新的变异体，其分子病变尚不清楚。G6 PD卡利亚里样具有类似于在撒丁岛分离的G6 PD卡利亚里的生化特征，并被发现具有与G6 PD地中海相同的核苷酸取代。G6 PD Montalbano是一种新的变体，由于G→A转换导致285位的Arg→His氨基酸替换，具有接近正常的特性。
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.
影响因子：
8
作者：
Karnauskas, R;Niu, Q;Rudin, CM
通讯作者：
Rudin, CM
编码大鼠葡萄糖-6-磷酸脱氢酶的 cDNA 的克隆和序列。
影响因子：
14.9
作者：
Ho,YS;Howard,AJ;Crapo,JD
通讯作者：
Crapo,JD