来自撒丁岛南部的一些葡萄糖-6-磷酸脱氢酶变体的分子和生化数据。
Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.
作者信息
Frigerio R, Sole G, Lovicu M, Passiu G
机构信息
Research Institute on Thalassemias, Italian National Research Council, Cagliari.
出版信息
Haematologica. 1994 Jul-Aug;79(4):319-21.
BACKGROUND
Glucose-6-phosphate dehydrogenase (G6PD; E.C.1.1.1.49) deficiency is the most common human enzymopathy; nearly 400 different biochemical variants of the enzyme have been described. Sardinia is the Italian region with the highest frequency of this defect.
METHODS
We examined genomic DNA of 16 subjects with G6PD Mediterranean, 2 with G6PD Athens-like, 1 with G6PD Ferrara 2 (all as biochemically defined).
RESULTS
All G6PD Mediterranean subjects had a C-->T mutation at nucleotide 563 and a C-->T transition at nucleotide 1311; G6PD Athens-like and Ferrara 2 subjects had a G-->C mutation at nucleotide 844 (the same mutation has been found in G6PD Seattle-like).
CONCLUSIONS
This study suggests that in Southern Sardinia G6PD mutations are relatively homogeneous and that the results of biochemical characterization studies must be carefully evaluated, because the same mutations might be responsible for different biochemical behavior.
背景
葡萄糖-6-磷酸脱氢酶（G6PD；E.C.1.1.1.49）缺乏症是最常见的人类酶病；已描述了该酶近400种不同的生化变体。撒丁岛是意大利该缺陷发生率最高的地区。
方法
我们检测了16名患有地中海型G6PD、2名患有雅典样G6PD、1名患有费拉拉2型G6PD（均通过生化定义）的受试者的基因组DNA。
结果
所有地中海型G6PD受试者在核苷酸563处有一个C→T突变，在核苷酸1311处有一个C→T转换；雅典样和费拉拉2型G6PD受试者在核苷酸844处有一个G→C突变（在西雅图样G6PD中也发现了相同的突变）。
结论
本研究表明，在撒丁岛南部，G6PD突变相对单一，生化特征研究结果必须仔细评估，因为相同的突变可能导致不同的生化表现。
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