探讨采用突变特异性扩增系统(amplification refractory mutation system，ARMS)技术检测葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase, G6PD)缺乏症患者基因突变的可行性。

采用突变特异性扩增系统技术对2007至2010年3月在本院遗传诊断中心门诊就诊的云南省本地人群中，既往有葡萄糖-6-磷酸脱氢酶缺乏症生育史，或孕前筛查、新生儿筛查发现葡萄糖-6-磷酸脱氢酶缺乏症患者和葡萄糖-6-磷酸脱氢酶缺乏症高风险胎儿，共计32例(男性为15例，女性为17例)进行葡萄糖-6-磷酸脱氢酶缺乏症患者三种常见基因突变检测(本研究遵循的程序符合本院人体试验委员会制定的伦理学标准，征得受试者本人或其监护人的知情同意)。

32例确诊为葡萄糖-6-磷酸脱氢酶缺乏症高风险患者中，23例检出三种常见基因突变，其中1388 (G→A) 突变为12例，1376 (G→T) 突变为9例，95 (A→G) 突变为2例，这三种突变占本组患者的71.9%(23/32)。

突变特异性扩增系统技术可作为葡萄糖-6-磷酸脱氢酶缺乏症患者常规基因诊断和产前诊断方法。突变特异性扩增系统技术对胎儿，既可检出男性患者，又可检出女性杂合子，但对少数患者仍需采用其他技术检测葡萄糖-6-磷酸脱氢酶缺乏症患者基因突变。

To investigate the feasibility of amplification refractory mutation system (ARMS) on detecting gene mutation of glucose-6-phosphate dehydrogenase (G6PD) in Yunnan Province.

A total of 32 glucose-6-phosphate dehydrogenase deficiency patients, 15 male and 17 female, were measured to detect three common gene mutation by amplification refractory mutation system from March 2007 to March 2010 in the Genetic Diagnosis Center of the First Yunnan Provincial People's Hospital. Those 32 patients included patients who had G6PD deficient children, glucose-6-phosphate dehydrogenase deficient patients diagnosed by pre-pregnancy care and newborn screening and high-risk fetuses. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Yunnan Provincial People's Hospital. Informed consent was obtained from all participants. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Yunnan Provincial People's Hospital. Informed consent was obtained from all participants.

In 32 cases tested by amplification refractory mutation system, 23 patients (71.9%) were identified with three common gene mutations, including 12 cases of G1388 (G→A) mutation, 9 cases of G1376(G→T) mutation, and 2 cases of A95 (A→G) mutation.

Amplification refractory mutation system, which revealed gene mutation of glucose-6-phosphate dehydrogenase deficiency in both male patients and female heterozygotes, could be used as a routine clinical test for genetic diagnosis and prenatal diagnosis, but other techniques should be established to identify more gene mutation of glucose-6-phosphate dehydrogenase gene mutations.