Two commonly occurring nucleotide base substitutions in Chinese G6PD variants.
Two commonly occurring nucleotide base substitutions in Chinese G6PD variants.
复制标题
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
复制
发表时间：
1991
影响因子：
3.1
通讯作者：
Du,CS
中科院分区：
文献类型：
--
作者：
Chiu,DT;Zuo,L;Chen,E;Chao,L;Louie,E;Lubin,B;Liu,TZ;Du,CS
使用直接PCR测序技术，我们已经确定了两个DNA碱基替换在8个不同的生化G6PD变异的中国起源。这些异常均未在其他种族群体中报告。在3个变异体中发现了cDNA 1376处G到T取代的异常（C1），导致氨基酸从Arg变为Leu。在5个变异体中发现了另一种异常（C2），即cDNA 1388处G → A的替换，导致氨基酸由Arg变为His。C1和C2都位于G6PD基因的外显子12，相距仅12个碱基对。然而，C1与脱氨基NADP利用率的显著增加相关，而C2则不然。综上所述，我们的数据表明，C1和C2是非常常见的中国人与G6PD缺乏症和外显子12可能定义了一个重要的功能域的人G6PD。
Using a direct PCR sequencing technique, we have identified two DNA base substitutions in 8 different biochemical G6PD variants of Chinese origin. Neither one of these abnormalities has been reported in other ethnic groups. An abnormality (C1) of G to T substitution at cDNA 1376 causing an amino acid change from Arg to Leu has been found in 3 variants. Another abnormality (C2) of G to A substitution at cDNA 1388 causing an amino acid change from Arg to His has been found in 5 variants. Both C1 and C2 are located in exon 12 of the G6PD gene and are only 12 base pairs apart. However, C1 is associated with a significant increase in the deamino-NADP utilization rate, whereas C2 is not. Taken together, our data suggest that C1 and C2 are very common among Chinese with a G6PD deficiency and exon 12 may define an important functional domain of the human G6PD.
葡萄糖-6-磷酸脱氢酶的分子异质性
DOI：
--
发表时间：
1989
期刊：
影响因子：
--
作者：
E. Beutler;JL Vives;JT Prchal
通讯作者：
JT Prchal
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
影响因子：
1.9
作者：
Giuseppe Viglietto;V. Montanaro;Viola Calabrò;Daniela Vallone;Michele D'Urso;M. Persico;G. Battistuzzi
通讯作者：
G. Battistuzzi
G6PD Canton 是东南亚常见的缺陷变异，由 459 Arg----Leu 突变引起。
影响因子：
14.9
作者：
D. Stevens;W. Wanachiwanawin;P. Mason;Tom Vulliamy;Lucio Luzzatto
通讯作者：
Lucio Luzzatto