云南省保山市城区学龄前儿童葡萄糖6磷酸脱氢酶缺乏症基因频率

目的 了解云南省保山市城区儿童葡萄糖6磷酸脱氢酶缺乏症基因频率。方法 运用G6PD／6PGD比值法确定葡萄糖6磷酸脱氢酶缺乏症。结果 304名学龄前儿童中，共检出G6PD缺乏症46人，其中男童为26人，女童为17人，G6PD缺乏症基因频率为0．19。结论 云南省保山市城区学龄前儿童G6PD缺乏症基因频率较高，为该病的预防提供理论依据。     

脐带血筛查红细胞葡萄糖6磷酸脱氢酶缺陷的研究

葡萄糖6磷酸脱氢酶简称G6PD,红细胞G6PD缺陷时是产生新生儿病理性黄疸主要病因之一,为了做好新生儿病理性黄疸的防治工作,我院从1984年1月开始至1992年2月开展脐带血筛查红细胞G6PD缺陷工作,8年来共查脐带血4249份.孕妇血4425份.其结果报道如下.     

婴儿红细胞葡萄糖6—磷酸脱氢酶缺乏症46例临床分析

分析在我科诊治的46例婴儿红细胞葡萄糖6-磷酸脱氢酶（G6PD）缺乏症的临床情况。其中,突出的表现为高胆红素血症,在可查的诱因中,以感染占首位（51.2%)。临床上高胆红素血症的程度轻重悬珠,从生理性黄疸至严重黄疸,甚至发生胆红素脑病,若并存其它病理状态（如ABO溶血病,败血症等）可加重溶血和黄疸,使病情复杂化,另外,本文还对G6PD缺乏的新生儿易发生高胆红素的机理及高胆红素血症的治疗作初步探讨。     

葡糖-6-磷酸脱氢酶缺乏症基因多态性研究

葡糖-6-磷酸脱氢酶（G6PD）缺乏症是一种X染色体连锁不完全显性遗传病,是由于G6PD基因突变导致相应酶活性降低或性质改变引起的。患病者多无明显临床症状,但在一些特定诱因下可发病,主要表现有皮肤黄染、先天性慢性非球形细胞溶血性贫血、药物或感染所导致的急性溶血。随着分子生物学、遗传学及基因组学等检测技术的提高和对本病研究的不断深入,人们发现了越来越多的基因突变位点及其特异性分布。本文对近年来G6PD缺乏症的基因多态性研究进行综述,并着重选取我国部分地区、不同民族间发现的G6PD缺乏症相关基因突变位点和类型进行讨论。     

脐带血葡萄糖6磷酸脱氢酶定量测定的应用研究

为了探讨G6PD缺乏与新生儿发生高间接胆红素血症（HIB）的相关性,该文对611例足月产新生儿脐带血做G6PD定量测定后进行跟踪检验,结果：G6PD缺乏的52例新生儿中,发生HIB17例（32．6％）;在G6PD正常的559例新生儿中发生HIE40例（7．1％）两组病例经统计学分析,新生儿HIB的发病率存在极显著的差异（U＝637、P＜0．01）。对52例G6PD缺乏的患儿统计分析发现;23例G6PD明显缺乏（G6PD＜7．0U/g Hb之间）的新生儿发生HIB的只有3例（10．3％）;两组病例的新生儿HIB发病率有极显著差异（U＝3．89,P＜0．01）。上述检验数据分析表明：G6PD缺乏是新生儿HIB的主要病因之一,并且G6PD测定值越低,新生儿发生HIB的可能性越大。     

湖北宜昌人3种红细胞葡萄糖6磷酸脱氢酶变异型

本院对贫血原因待查小儿493人进行了红细胞葡萄糖6磷酸脱氢酶（G6PD）实验筛查．诊断为G6PD缺陷87例．其中3例送至同济医科大学附属协和医院溶血性贫血实验室作G6PD变异型鉴定，确定为3种变异型：Gd（－）台北－客家型；Gd（－）台北型；Gd（－）宜昌型。现报道如下。病例资料例1：李某，男，2岁，宜昌籍，汉族，1977年3月10日入院，住院号433。病史：患儿因食炒蚕豆12小时出现乏力、腹痛、呕吐、尿呈酱油样入院。患儿姨婊兄有“蚕豆黄”病。体检：体温38℃，贫血貌，肤色轻度苍黄，皮肤无出血点。表浅淋巴结不肿大。双肺呼吸音清，无…     

海南汉族、黎族人群葡萄糖—6—磷酸脱氢酶基因的1376G→ …

目的 了解海南汉族、黎族人群Ｇ６ＰＤ缺乏症患者的Ｇ６ＰＤ基因１３７６Ｇ→突变。方法 用盐提取法提取Ｇ６ＰＤ缺乏症患者白细胞的ＤＮＡ,用等位基因特异聚合酶链反应检测１３７６Ｇ→Ｔ突变。结果在分析的５９例汉族患者和３２例黎族患者中,１９例汉族患者和１８例黎族患者有Ｇ６ＰＤ基因１３７６Ｇ→Ｔ突变,该突变在汉族、黎患者中所占的比例分别为３２．２％和５６．２％。结论 Ｇ６ＰＤ基因１３７６Ｇ→Ｔ是引起海南黎族     

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population

We conducted a survey of malaria diagnoses and treatments in remote areas of Myanmar. Blood specimens from more than 1,000 people were collected by the finger-prick method, and 121 (11%) of these people were found to be glucose-6-phosphate dehydrogenase (G6PD) deficient. Of these 121, 50 consented to analysis of the G6PD genome. We read the G6PD sequences of these subjects and found 45 cases of G6PD Mahidol (487G>A), two of G6PD Coimbra (592C>T), two of G6PD Union (1360C>T), and one of G6PD Canton (1376G>T). Taken together with data from our previous report, 91.3% (73/80) of G6PD variants were G6PD Mahidol. This finding suggests that the Myanmar population is derived from homogeneous ancestries and are different from Thai, Malaysian, and Indonesian populations.     

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population

We conducted a survey of malaria diagnoses and glucose-6-phosphate dehydrogenase (G6PD) testing in remote areas of Cambodia. Blood specimens from 670 people were collected by the finger-prick method. Of these people, 24.9% were found to have malaria, and 7.0% of people were G6PD deficient. In the Khmer, the largest ethnical population in Cambodia, the G6PD deficiency rate of males was 12.6% (25/199) whereas the rates in the minorities of the Tum Pun and the Cha Ray were 1.1% (1/93) and 3.2% (2/63), respectively. Of the G6PD-deficient subjects, 97.9% (46/47) were G6PD Viangchan (871G>A), and only one case (2.1%) was G6PD Union (1360C>T). Since G6PD Mahidol (487G>A) is common in Myanmar according to our previous study, the current finding suggests that the Cambodian population is derived from homogeneous ancestries and is different from the Myanmar population. All G6PD Viangchan cases were linked to two other mutations of 1311C>T and IVS-11 nt93T>C in the G6PD gene.     

Glucose-6-phosphate dehydrogenase deficiency and malaria

 Glucose-6-phosphate dehydrogenase (G6PD) is a cytoplasmic enzyme that is essential for a cell’s capacity to withstand oxidant stress. G6PD deficiency is the commonest enzymopathy of humans, affecting over 400 million persons worldwide. The geographical correlation of its distribution with the historical endemicity of malaria suggests that 66PD deficiency has risen in frequency through natural selection by malaria. This is supported by data from in vitro studies that demonstrate impaired growth of P. falciparum parasites in G6PD-deficient erythrocytes. Attempts to confirm that G6PD deficiency is protective in field studies of malaria have yielded conflicting results, but recent results from large case control studies conducted in East and West Africa provide strong evidence that the most common African G6PD deficiency variant, G6PD A^–, is associated with a significant reduction in the risk of severe malaria for both G6PD female heterozygotes and male hemizygotes. The effect of female homozygotes on severe malaria remains unclear but can probably be assumed to be similar to that of comparably deficient male hemizygotes. Received: 14 October 1996 / Accepted: 13 October 1997     

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in Southeast Asians. G6PD mutations are associated with specific ethnic groups in Southeast Asia. Mon is a minority ethnic group in Myanmar, which speaks Monic, a distinct language of Mon-Khmer classification. We studied G6PD mutations in Mon and Burmese males of southern Myanmar who migrated to Thailand in Samutsakhon province. G6PD deficiency was identified in 19 (12%) of 162 Mon males and 17 (10%) of 178 Burmese males, and then assayed for G6PD mutations. Among 19 G6PD-deficient Mons, 12 were G6PD Mahidol; one case each was G6PD Jammu (871G > A; nt 1311C), G6PD Kaiping (1388G > A), G6PD Mediterranean (563C > T), a novel mutation 94(C > G); and three remain unidentified. Among 17 G6PD-deficient Burmese, 12 were G6PD Mahidol; one each was G6PD Coimbra (592C > T), G6PD Kerala-Kalyan (949G > A), and G6PD Valladolid (406C > T); and two remain unidentified. G6PD Mahidol (487G > A) is the most common mutation among Mons and Burmese. All G6PD deficient Mon and Burmese, except for a person with G6PD Valladolid, shared the same haplotype nt93T, nt1311C. Despite a similar language root with Cambodian’s Khmer language, our study suggests that Mon people share a common ancestry with Burmese rather than Cambodians.     

新生儿G6PD缺乏症筛查及遗传咨询措施的研究

目的新生儿G6PD缺乏症筛查,计算发病率、基因频率,患儿治疗及遗传咨询。方法筛查用荧光分辨法,确诊用G6PD/6PGD比值测定法。结果2007年10月至2008年10月对我院新出生的9842例新生儿进行了G6PD缺乏症筛查,男性5286例,女性4556例,共检出确诊病例18例。发病率为1.83‰(18/9842),其中男性发病16例,为1.63‰(16/9842),女性2例,为0.2‰(2/9842)。男女比例8∶1。G6PD缺乏症基因频率为0.00303(16/5286)。18例病儿中,祖籍为上海浦东人,发病3例,占16.67%(3/18),祖籍为外地人口发生15例,占83.33%(15/18)。     

一种灵敏的干血斑葡萄糖-6-磷酸脱氢酶荧光分析法的建立

目的建立葡萄糖-6-磷酸盐脱氢酶（G6PD）荧光分析方法,用于新生儿足跟干血斑中G6PD酶活性的定量测定。方法选择干血斑配制基质,优化底物、复溶物和铜试剂组分,建立G6PD荧光分析法定量检测方法,并对该试剂的各项性能指标进行评价。结果自制试剂分析灵敏度为0.05U/gHb;分析内和分析间精密度分别为4.12%～8.93%、4.75%～9.86%;试剂的cutoff值为2.23U/gHb;1066份样本用该试剂与PerkinElmer（PE）公司同类试剂平行检测,两种试剂测值具有显著相关性（P=0.000）,相关系数为0.960;以PE公司试剂为对照,本试剂的阳性符合率为99.4%,阴性符合率为98.93%。结论该试剂灵敏度高、操作简便快捷,具有良好的精密度,临床检测性能良好,可以满足临床应用的需要。     

Glucose-6-phosphate dehydrogenase in small intestine of rabbit: biochemical properties and subcellular localization

Biochemical properties and cellular and subcellular distribution patterns of glucose-6-phosphate dehydrogenase (G6PD) were investigated in small intestine of rabbits. The specific activity of G6PD in fresh homogenates of small intestine was 19 +/- 9 IU/g protein. This value did not change significantly after dialysis. The kinetic and electrophoretic properties of the partially purified enzyme were similar to those found in other rabbit tissues. Enzyme histochemical analysis of G6PD activity using the tetrazolium salt method showed high activity in epithelial cells of villi and crypts of Lieberkuhn. The activity in acinar cells of Brunner's glands was lower than that in epithelium, whereas cells of the muscularis externa showed a very low activity. Immunohistochemical analysis showed that the amounts of G6PD protein were lower in the epithelium than in Brunner's glands and muscularis externa. The differences between distribution patterns of activity and protein of G6PD may reflect the presence of inactive enzyme molecules in Brunner's glands and muscularis externa or posttranslational activation of G6PD in epithelium. Electron microscopic immunocytochemical analysis performed with gold-labelled antibodies showed the presence of G6PD protein throughout the cytoplasm and at smooth endoplasmic reticulum in enterocytes. In Paneth cells and cells of Brunner's glands, G6PD was found in the cytoplasm, at rough endoplasmic reticulum and Golgi complex. Immunolabelling was not found in mitochondria or nuclei. Our findings show that G6PD is heterogeneously distributed in cells of the small intestine and that the enzyme is associated with rough and smooth endoplasmic reticulum to support synthetic functions in these compartments by NADPH production.     

Detection of a new abnormal variant of glucose-6-phosphate dehydrogenase in human erythrocytes

The kinetic and electrophoretic properties of preparations of glucose-6-phosphate dehydrogenase (G6PD), obtained from erythrocytes from healthy blood donors and patients with acute drug-induced hemolytic anemia caused by G6PD deficiency, purified 230–300 times, were investigated. A new abnormal variant of G6PD, not previously described in the literature, was isolated from the erythrocytes of a patient with acute drug-induced hemolytic anemia. The abnormal enzyme differs from the normal in having a lower Michaelis constant for glucose-6-phosphate and NADP, in its increased utilization of substrate analogs (2-deoxyglucose-6-phosphate and, in particular, diamino-NADP), low thermostability, the character of its pH dependence, and in the appearance of only one band of G6PD activity during electrophoresis in polyacrylamide gel.Central Institute of Hematology and Blood Transfusion, Ministry of Health of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. E. Severin.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 84, No. 12, pp. 728–731, December, 1977.     

Increased induction of apoptosis in mononuclear cells of a glucose-6-phosphate dehydrogenase deficient patient

Glucose-6-phosphate dehydrogenase (G6PD) deficiency belongs to the most common human disorders of metabolism. In affected patients generation of free radicals causes life-threatening hemolytic crises, for example, after consumption of certain drugs and foods or after infections. Rather than erythrocytes we analyzed mononuclear white blood cells of a patient suffering from G6PD deficiency with respect to their ability to enter apoptosis after treatment with daunorubicin, ionizing radiation, or dexamethasone. The induction of apoptosis was increased in G6PD-deficient cells compared to cells from eight normal donors. In parallel, the glutathione content of mononuclear cells from the G6PD-deficient patient was significantly decreased. While in affected patients decreased life span of erythrocytes damaged by oxidative stress has long been recognized as the mechanism underlying hemolysis, peripheral leukocytes have not received similar attention. Induction of apoptosis is a relatively complex process that has been linked to cellular glutathione content. This is the first report investigating G6PD deficiency and apoptosis.Abbreviations G6PD glucose-6-phosphate dehydrogenase - GSH glutathione - DNR daunorubicin - IR ionizing radiation - DEX dexamethasone