摘要
目的探索广西地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症新的基因型。方法对广西30例G6PD缺乏症的基因型使用变性高效液相(DHPLC)筛选,然后使用直接测序或限制性内切酶进行再检测。结果在我国大陆第一次确定G6PD Viangchan(871G→A,1311C→T)的存在,共3例,占10.0%;首次发现1例G6PD Union(1360C→T),占3.3%;其余为G6PD Ganton(1376G→T)占30.0%,G6PD Kaiping(1388G→A)占26.7%和G6PD Gaohe(95A→G)占23.3%。结论除G6PD Ganton、Kaiping和Gaohe三种中国常见的变异型之外,广西尚有G6PD Viangchan和G6PD Union。G6PD Vi-angchan和G6PD Union在我国大陆均为首次报道。
Objective To explore new genotypes of glucose-6-phosphate dehydrogenase（G6PD） deficiency in Guangxi. Methods G6PD mutations were identified by combination of denaturing high performance liquid chromatography （ DHPLC）, DNA sequencing and restriction endonuclease assay. Results Three cases （ 10.0% ） of G6PD Viangehan （ 871G→A, 1311C→T） and one case （ 3.3% ） of G6PD Union （ 1360C→T） were first identified in China mainland. G6PD Ganton （ 1376G→T, 30.0% ） was the commonest mutation, followed by Kaiping （ 1388G→A, 26.7% ）, and Gaohe （95A→G, 23.3% ）. Conclusion Besides G6PD Ganton, Kaiping and Gaohe, there are G6PD Viangchan and Union in Guangxi. G6PD Viangchan and Union is reported for the first time in China mainland.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2005年第10期607-611,共5页
Chinese Journal of Hematology
基金
广西壮族自治区卫生厅科研经费资助项目(9703)
