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中文摘要：
目的了解百色地区出生的壮族新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症基因突变特点,以提高诊断水平。方法用速率法筛查新生儿G6PD活性,选择2012年2~12月在我院产科出生或入住新生儿病房的G6PD缺乏症壮族新生儿,用PCR加反向点杂交技术快速检测中国人常见的基因突变类型G1388A、G1376T、C1024T、C1004T、G871A和A95G。结果共诊断49例G6PD缺乏症患儿,检出突变类型42例,单个位点突变40例,其中G1388A 10例（23.8%）、G1376T11例（26.2%）、A95G 14例（33.3%）、C1024T 5例（11.9%）;复合位点突变2例（4.8%）均为G1388A＋A95G。结论百色地区为少数民族聚集区,基因突变有其较为特殊的类型。
英文摘要：
Objective To identify the characteristics of glucose-6-phosphate dehydrogenase （G6PD） deficiency gene mutation among newborns of Baise region in order to improve diagnosis. Methods Using a rapid screening method for G6PD activity in newborns a total of 49 cases were identified with G6PD deficiency. PCR and reverse dot-blotting were used to detect the common types of gene mutations in Chinese such as G1388A,G1376T,C1024T,C1004T,G871A and A95G. Results A total of 42 cases were identified with G6PD mutations. Among all the detected mutations, single point mutations were found in 40 cases, including 10 cases （23.8%） of G1388A, 11 cases （26.2%） of G1376T, 14 cases （33.3%） of A95G, 5 cases （ 11.9% ） of C1024T; multi-point mutations were found in 2 cases （4. 8% ） of G1388A and A95G. Conclusions Baise region has a high population of a particular minority group, which has its own characteristic of G6PD deficiency gene mutation.
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