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目的建立变性高效液相色谱筛查G6PD基因变异的技术。观察广东汉族和壮族G6PD基因变异型的分布。方法应用变性高效液相色谱技术筛查广东汉族和壮族G6PD基因变异型。与ARMS及DNA测序比较,考察其准确性、灵敏度、效率及耗资。结果在73例G6PD缺陷者中发现G6PD1388G→A20例、1376G→T24例、95A→G6例、1311C→T8例、1024C→T3例、392G→T2例、871G→A1例、1376G→A/95A→G4例、1388G→A/95A→G3例、1311C→T/95A→G2例,与DNA测序结果吻合;在酶学正常对照组中发现男1例女2例1388突变。结论变性高效液相色谱技术对G6PD基因变异型的筛查具有准确、高效、半自动化及经济等优点。尤其对无症状女性杂合子及临床Ⅳ型个体的筛查具有重要意义。
Objective To establish a technique for screening G6PD gene variation by denaturing high performance liquid chromatography. To observe the distribution of G6PD variant in Han and Zhuang ethnic groups in Guangdong province. Methods The genotypes of G6PD in Han and Zhuang Guangdong were screened by denaturing high performance liquid chromatography. Compared with ARMS and DNA sequencing, its accuracy, sensitivity, efficiency and cost were investigated. Results Among 73 G6PD-deficient patients, G6PD1388G → A20, 1376G → T24, 95A → G6, 1311C → T8, 1024C → T3, 392G → T2, 871G → A1, 1376G → A / 95A → G4 cases, 1388G → A / 95A → G3 cases, 1311C → T / 95A → G2 cases, which were in good agreement with the DNA sequencing results. Two cases of 1388 mutations were found in the normal control group. Conclusion Denaturing high performance liquid chromatography has the advantages of accurate, efficient, semi-automated and economical screening of G6PD variants. Especially for asymptomatic female heterozygous and clinical type IV individuals screening is of great significance.