佛山地区小儿G6PD常见基因突变型的临床研究

目的　探讨佛山地区小儿G6PD缺乏症患儿基因突变类型。方法　使用突变特异性扩增系统 (ampliticationre fractorymutationsystem ,ARMS)方法测定经G6PD/ 6磷酸葡萄糖酸脱氢酶 (6PGD)比值法二次验证的患儿 4 0例静脉血。结果　4 0例G6PD缺乏症标本男 39例 ,女 1例。经ARMS方法分析 3种已知突变。其中G1388A突变 17例 ,占 4 5 % ;G1376T突变 10例 ,占 2 5 % ;A95G突变 3例 ,占 7.5 % ,未定型 10例 ,3种常见突变共计 30例 ,占 75 %。结论　G6PD基因突变型G1388A、G1376T及A95G也是佛山地区G6PD缺乏症的常见基因突变型 ,以G1388A最多见。

Clinical study on G6PD gene mutations of children in Foshan area.

Objective: To investigate mutations in the Glucose-6-phospate dehydrogenase(G6PD)gene among G6PD-deficient children in Foshan and make benefits for the prevntion and treatment of G6PD deficiency.Methods: The amplification refractory mutation system(ARMS) was used to detect gene point mutation in forty G6PD-deficient patients that had been diagnosed by using nitroblue tetrazolium qualitative and quantitative methods. Results: Of the forty G6PD deficiency sample,17 cases were found carrying the G1388A mutation,10 the G1376T mutation and 3 the A95G mutation for 45%,25% and 7 5%,respectively.The other 10 cases were not detected carrying the three mutations. Conclusion: G1388A,G1376T, and A95G were the common mutations in G6PD-deficient individuals in Foshan.