Xu W M, Wang Q, Hua X Y
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou.
Zhonghua Yi Xue Za Zhi. 1994 Jan;74(1):35-7, 64.
Hereditary glucose-6-phosphate dehydrogenase (G6PD) in red blood cell was one of the most common genetic diseases in South China. The research data of G6PD gene showed that at least 6 point mutations were responsible for various G6PD variants in Chinese. For developing a rapid, sensitive, and effective method to detect point mutation, we applied single-strand conformation (SSCP) analysis for detection of mutation in exon 2 of G6PD gene of 20 cases of G6PD variants. Four of them were found that mobility shift band in one of two single strands DNA is slower than other individuals. PCR direct sequencing for these 4 samples were given a base substitution (T to D) at nucleotide 95 of cDNA. The results indicated that this technique is very simple, sensitive, and useful over other methods of detecting point mutation. The experimental conditions of PCR-SSCP and features of this mutation were discussed at the same time.
红细胞中的遗传性葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是中国南方最常见的遗传病之一。G6PD基因的研究数据表明，在中国至少有6种点突变导致了不同的G6PD变异型。为了建立一种快速、灵敏、有效的点突变检测方法，我们应用单链构象多态性（SSCP）分析检测20例G6PD变异型患者G6PD基因外显子2的突变。其中4例发现两条单链DNA中的一条出现迁移率改变条带，其迁移速度比其他个体慢。对这4个样本进行PCR直接测序，发现cDNA第95位核苷酸发生了碱基替换（T突变为D）。结果表明，该技术比其他点突变检测方法更简单、灵敏、实用。同时讨论了PCR-SSCP的实验条件及该突变的特点。
