G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.
G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.
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G6PD Canton 是东南亚常见的缺陷变异，由 459 Arg----Leu 突变引起。
DOI：
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发表时间：
1990
影响因子：
14.9
通讯作者：
Lucio Luzzatto
中科院分区：
文献类型：
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作者：
D. Stevens;W. Wanachiwanawin;P. Mason;Tom Vulliamy;Lucio Luzzatto
G6 PD Canton是东方人中最常见的缺陷变体之一，在中国南方的基因频率达到1.7%（1）。为了鉴定G6 PD Canton中的分子病变，我们通过PCR扩增外显子，然后进行M13克隆和双脱氧核苷酸测序，对受影响个体的G6 PD基因进行了测序，如前所述（2）。确定了整个编码序列。仅发现与野生型序列G6 PD B（3）的一个碱基差异;这是在位置1376处的G-T改变，导致在氨基酸位置459处亮氨酸取代精氨酸。碱性氨基酸向不带电荷氨基酸的变化与G6 PD Canton的电泳快速迁移率一致。该精氨酸残基在来自酵母和果蝇的G6 PD分子中不保守，但其位于高度保守的氨基酸的两个区段之间（4，5）。
G6PD Canton is one of the most common deficient variants in Orientals, reaching a gene frequency of 1.7% in Southern China (1). To identify the molecular lesion in G6PD Canton we have sequenced the G6PD gene from an affected individual by PCR amplification of exons followed by M13 cloning and dideoxynucleotide sequencing as described previously (2). The entire coding sequence was determined. Only one base difference from the wild type sequence G6PD B (3) was found; this was a G— T change at position 1376 resulting in the substitution of leucine for arginine at amino acid position 459. The change of basic to uncharged amino acid is consistent with the electrophoretic fast mobility of G6PD Canton. This arginine residue is not conserved in G6PD molecules from yeast and drosophila but it lies between two blocks of highly conserved amino acids (4, 5).