Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.
Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.
复制标题
对日本发现的八种生化独特的葡萄糖-6-磷酸脱氢酶变体进行分子分析。
作者：
A. Hirono;H. Fujii;T. Takano;Y. Chiba;Y. Azuno;S. Miwa
我们分析了8个已知的日本葡萄糖-6-磷酸脱氢酶（G6 PD）变异体的分子突变，这些变异体具有独特的生化特性。其中三个是由新的错义突变引起的：G6 PD Musashino由185 C-->T引起，G6 PD Asahikawa由695 G-->A引起，G6 PD Kamiube由1387 C-->T引起。预测的引起无症状变体G6 PD Musashino（62 Pro->Phe）和G6 PD Kamiube（463 Arg->Cys）的氨基酸取代位于靠近多肽链的氨基或羧基末端的区域，而引起1类变体G6 PD Asahikawa的氨基酸变化232 Cys->Tyr位于一些1类变体中的氨基酸改变聚集的区域。其他5个变异体有已知的错义突变，即G6 PD福岛，1246 G-->A，G6 PD盛冈，1339 G-->A，和G6 PD岩手，G6 PD新泻和G6 PD山口，1160 G-->A，它们分别引起变异体，G6 PD东京，G6 PD圣地亚哥德古巴和G6 PD贝弗利山。
We analyzed the molecular mutations of eight known Japanese glucose-6-phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C-->T, G6PD Asahikawa by 695 G-->A, and G6PD Kamiube by 1387 C-->T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro-->Phe) and G6PD Kamiube (463 Arg-->Cys) were located in regions near the amino or carboxyl end of the polypeptide chain, whereas an amino acid change 232 Cys-->Tyr causing a class 1 variant G6PD Asahikawa was located in the region where amino acid alterations in some class 1 variants were clustered. The other five variants had known missense mutations, namely, G6PD Fukushima, 1246 G-->A, G6PD Morioka, 1339 G-->A, and G6PD Iwate, G6PD Niigata and G6PD Yamaguchi, 1160 G-->A, which cause variants, G6PD Tokyo, G6PD Santiago de Cuba, and G6PD Beverly Hills, respectively.
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影响因子：
1.6
作者：
Burger C;Maindl TI;Schäfer CM
通讯作者：
Schäfer CM
中国 G6PD 变体中两种常见的核苷酸碱基替换。
DOI：
10.1016/s0006-291x(05)81163-5
发表时间：
1991
影响因子：
3.1
作者：
Chiu,DT;Zuo,L;Chen,E;Chao,L;Louie,E;Lubin,B;Liu,TZ;Du,CS
通讯作者：
Du,CS
DNA 分析在血红蛋白疾病诊断中的应用。
影响因子：
--
作者：
Goossens,M;Kan,YY
通讯作者：
Kan,YY
影响因子：
2.3
作者：
Beutler, E;Vulliamy, T;Luzzatto, L
通讯作者：
Luzzatto, L