中山市PKU、CH、G6PD缺乏三种疾病新生儿筛查结果分析

目的　建立中山市新生儿疾病筛查方法 ,了解PKU、CH、G6PD缺乏的新生儿发病率。方法　 10 783例新生儿分别在出生时采脐血肝素抗凝和出生后 4 8h～ 72h采足跟血制成滤纸干血斑。G6PD缺乏的筛查采用脐血荧光斑点定性试验测定G6PD活性 ,PKU筛查采用荧光定量法检测滤纸干血斑中Phe含量 ,CH筛查采用DELFIA法检测滤纸干血斑中TSH含量。结果　CH发病率 1/ 2 6 96 ,G6PD缺乏检出率 3 4 6 % ,未检出PKU。结论　新生儿筛查是PKU、CH、G6PD缺乏患儿得到早期诊治避免发生体格和智能发育障碍的有效手段 ,是提高人口素质的重要措施。     

地中海贫血伴G6PD缺陷临床研究报告

地中海贫血（地贫）与红细胞葡萄糖6磷酸脱氢酶（G6PD）缺陷，在我国华南地区尤为广东较为多见。现将11例地中海贫血其中α—地贫4例，β—地贫7例合并G6PD缺陷分析如下。     

G6PD试纸法与G6PD/6PGD 比值法的对照研究

目的 通过G6PD试纸法与G6PD／6PGD比值法的对比，探讨应用G6PD试纸法的可行性。方法 同时用G6PD试纸法与G6PD／6PGD比值法对115名广东籍儿童进行G6PD缺乏定性检查，观察两种方法的优缺点。结果 本组病例G6PD缺乏症患者的检出率，两种方法的符合率100％，而杂合子的诊断G6PD试纸法可提供，G6PD／6PGD比值法未能提供。结论 G6PD试纸法使用方便简单，快速，且可以检出杂合子，尤其适合普查及不易抽静脉血的新生儿，婴幼儿及危重病人。     

天津地区G6PD缺陷患者常见基因突变分析

目的研究北方地区葡萄糖－６－磷酸脱氢酶（ｇｌｕｃｏｓｅ－６－ｐｈｏｓｐｈａｔｅｄｅｈｙｄｒｏｇｅｎａｓｅ，Ｇ６ＰＤ）基因突变类型、基因突变与人口变迁。方法采用“错配引物”介导的聚合酶链反应／限制性酶切分析法和双脱氧核苷酸指纹印迹检测法，对天津地区２２例Ｇ６ＰＤ缺陷患者进行３种中国南方人群常见的Ｇ６ＰＤ基因突变的分析。结果８例患者（８／２２，３６．４％）有Ｒ４５９Ｌ（１３７６Ｇ→Ｔ）突变；７例患者（７／２２，３１．８％）有Ｒ４６３Ｈ（１３８８Ｇ→Ａ）突变；７例（７／２２）无１３７６和１３８８位点突变病例中，有３例做了Ｈ３２Ｒ（９５Ａ→Ｇ）突变分析，提示１例有该位点突变。结论北方地区也存在中国南方人群常见的３种Ｇ６ＰＤ基因突变，大多数中国北方Ｇ６ＰＤ缺陷患者是由于中国南方移民迁移造成的。     

Ⅱ型糖尿病肾病患者血清Ⅳ型胶原水平与红细胞膜ATP酶活性的关系

Ⅳ型胶原（Ⅳ）为一种胶原蛋白 ,是构成细胞外基质的成分之一。近年的研究表明［１～２］,Ⅳ型胶原主要用于肝纤维化、肝硬化的研究报道较多 ,国内尚少见有Ⅱ型糖尿病肾病血清Ⅳ型胶原水平的报道。更未见与患者红细胞膜ＡＴＰ酶相关研究的报道。为此 ,我们进行了探讨 ,现将结果报告如下。对象和方法一、对象 :（一）正常人 :３５人。均为我院预防保健科体检合格的健康人 ,心、肝、肺、肾等重要脏器无疾患 ,肝、肾功能试验正常。无糖尿病、肾病及高血压等病。（二）病人组 :５７人。均为临床上明确诊断的Ⅱ型糖尿病患者 ,其诊断标准为 :患糖…     

广东客家人 G6PD基因突变型研究

目的　研究广东客家人葡萄糖 - 6 -磷酸脱氢酶缺乏症 (glucose- 6 - phosphate dehydrogenase,G6 PD)遗传多样性。方法　应用突变特异性扩增系统法 ,聚合酶链反应 -单链构象多态性并结合 DNA测序技术 ,确定客家人 G6 PD基因突变型的类型及频率。结果　在客家人中发现 G6 PD c DNA1388(G→ A)、1376 (G→ T)、95 (A→ G)、392 (G→ T)、10 2 4 (C→ T)及 1311(C→ T)复合 11内含子 93位 (T→ C)的突变。结论　 G6 PD基因 c DNA1388(G→A)、1376 (G→T)、95 (A→ G)、392 (G→ T)、10 2 4 (C→ T)、1311(C→T)复合 11内含子 93位 (T→C)突变是共同存在于中国人群中的 G6 PD基因突变型。c DNA1388(G→A)、c DNA 1376 (G→ T)是客家人群中最常见的 G6 PD基因突变型。在广东客家人群中未发现新的 G6 PD基因突变型。     

1478例育龄男女G6PD缺乏的筛查研究

红细胞葡萄糖６－磷酸脱氢酶（Ｇ６ＰＤ）缺乏症是我国华南地区最常见的遗传性溶血性疾病，临床上可按酶的缺乏程度将此病分为二类：一类平时无溶血症状，但在某些诱因作用下发生溶血性反应；另一类在无诱因情况下出现慢性溶血，我国大多数病例属第一种。广东省发病率仅次...     

人类G6PD及其缺陷研究进展

Ｇ６ＰＤ是磷酸戊糖旁路代谢的限速酶，也是重要的看家酶。Ｇ６ＰＤ缺陷症是人类最常见的遗传性疾病。本文仅就Ｇ６ＰＤ的基因结构、蛋白表达、突变型研究及与疾病的关系进行了综述     

G6PD缺乏会增加乙型肝炎病毒感染吗？

本文对珠海地区Ｇ６ＰＤ缺乏症进行了调查，其发生率为２．９２％，基因频率为０．０１９６。并发现Ｇ６ＰＤ缺乏患者乙型肝炎病毒感染的机会比正常人高２倍，提示此病能增加某些疾病的易感性。     

G6PD缺乏与新生儿性别和ABO血型关系的探讨

为了探讨新生儿性别和血型与红细胞葡萄糖6磷酸脱氢酶(G6PD)缺乏的关系,本文随机对1015例新生儿脐带血做了血型和G6PD检测后进行跟踪检验,结果表明:男性新生儿G6PD缺乏显著多于女性(P<0.01)。男性G6PD缺乏的新生儿高胆红素血症发病率亦显著多于女性(P<0.05)。男性新生儿各血型间G6PD缺乏无显著差别(P>0.05)女性O型新生儿G6PD缺乏显著多于其它血型的新生儿(P<0.05)。     

逆转录病毒载体介导人类G6PD基因在人红白血病细胞中的表达

目的：探讨逆转录病毒载体介导人类G6PD基因在人白血病细胞中的表达。方法：构建G6PD cDNA的逆转录病毒表达载体pLG6PDSN,转染包装细胞PA317，病毒上清感染人红白血病细胞K562，以PCR方法检测病毒载体是否整合于细胞基因组，定量法测定G6PD表达。t检验比较转染组与对照组间的表达差异。结果：酶切鉴定表明，G6PD cDNA准确插入pLXSN相应位点，载体构建成功。转染后PCR扩增NeoR基因，证明细胞DNA整合有逆转录病毒载体。转染组与对照组酶活性测定差异有显著性（P＜0．01）。结论：本试验所构建的重组载体pLG6PDSN为严重G6PD缺陷症的基因治疗提供了表达载体。     

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.     

人类G6PD顺德型〔Gd（－）Shunde〕基因在大肠杆菌中的表达

为了证明一种人类新突变型Ｇ６ＰＤ顺德型，ｃＤＮＡ５９２Ｃ→Ｔ与酶活性降低和其生化特性改变有关，将正常Ｇ６ＰＤｃＤＮＡ，插入人工诱变载体ｐＡＬＴＥＰＲ－１中，用体外定点诱变技术，将ｃＤＮＡ５９２位的Ｃ置换为Ｔ，然后再插入ｐＡＣＩ，在其本身无Ｇ６ＰＤ活性的大肠杆菌ＨＢ３５１突变株中进行表达。实验证明，从ＨＢ３５１株表达出的人Ｇ６ＰＤ，酶活性降低，ＫｍＧ６Ｐ降低，三种底物同类物利用率明显增高，与人类Ｇ６ＰＤ顺德型的生化参数完全一致，表明５９２Ｃ→Ｔ是引起Ｇ６ＰＤ活性降低和生化特性改变的直接原因。     

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.     

G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations

G6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.     

Five different glucose-6-phophate dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia

We conducted a survey for malaria diagnosis and treatment in four primary schools in Flores Island, one of the Indonesian Islands with an area of 17,000 km² and a population of 1.8 million. Of those examined, 24.4% were diagnosed as having malaria (90/363) and administered medicine immediately. A glucose-6-phophate dehydrogenase (G6PD) test was performed at the same time, and 16 persons (4.4%) were diagnosed as G6PD deficient. Eleven persons consented to analysis of the G6PD genome. We analyzed these subjects and found one case of G6PD Vanua Lava (383T>C), five cases of G6PD Coimbra (592C>T), one case of G6PD Viangchan (871G>A), one case of G6PD Chatham (1003G>A), and three cases of G6PD Kaiping (1388G>A). These were unexpected findings because five different G6PD variants were found in such a small population. This suggests that people of Flores Island are derived from various ancestries.     

地高辛抗血清对缺氧损伤心肌组织内洋地黄素和心肌细胞膜ATP酶活性的影响

目的:评价地高辛抗血清对抗心肌缺氧损伤的作用与机制。方法: 制备心肌组织缺氧模型,观察不同剂量的地高辛抗血清对缺氧损伤心肌组织内洋地黄素水平和心肌细胞膜ATP酶活性的影响。结果: 缺氧损伤时心肌组织内洋地黄素水平明显高于正常对照组,心肌细胞膜ATP酶活性明显低于正常对照组;地高辛抗血清能明显拮抗缺氧对心肌细胞膜ATP酶活性的抑制作用。结论: 缺氧所致心肌组织内洋地黄素水平升高是缺氧介导心肌损伤的分子生物学基础,地高辛抗血清通过拮抗内洋地黄素的作用,减轻缺氧所致心肌损伤,对缺氧心肌具有保护作用。     

G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy among Southeast Asians. We studied G6PD mutations in 108 migrant Cambodian laborers in Chanthaburi province and cord blood samples from 107 Cambodian newborns at Buriram Hospital. Thirty-one (26.1%) of 119 Cambodian males and three of 96 (3.1%) females were G6PD deficient and were assayed for G6PD mutations. G6PD Viangchan (871G>A) was identified in most G6PD-deficient Cambodians (28 of 34; 82.4%); G6PD Union (1360C>T) and G6PD Coimbra (592C>T) was found in one case each. We concluded that G6PD Viangchan (871G>A) was the most common mutation among Cambodians. This finding is similar to G6PD-deficient Thais and Laotians, suggesting a common ancestry of people from these three countries.     

海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变型分析及一种新的G6PD基因突变型的鉴定

目的 阐明海南汉族、黎族人群中葡萄糖－6－磷酸脱氢酶缺乏症的分子基础。方法 用聚合酶链反应、限制性内切酶消化筛查了1388G→A、1360C→T、1024C→T、517T→C、493A→G、487G→A、392G→T和95A→G突变。用单链构象多态性分析筛查其它突变;用核苷酸顺序分析鉴定具有SSCP异常区带样品的突变;。结果 在59例汉族G6PD缺乏症患者中,发现1388G→A14例（23．7％）、871G→A3例（5．1％）、835A→T1例（1．7％）517T→C1例（1．7％）、392G→T3例（5．1％）95A→G4例（6．8％）;在32例黎族G6PD缺乏症患者中,发现1388G→A6例（18．8％）、871G→A3例（9．4％）和95A→G2例（6．3％）;在1例汉族患者中发现了一种新的G6PD基因突变－835A→G突变,此突变导致第279位的苏氨酸被丙氨酸取代,将此突变型命名为G6PD－海口,其酶活性约是正常的10％,此835A→T突变的活性低,后者的酶活性约是正常的40％。分析人G6PD的三维结构模型表明,第279位苏氨酸残基的羟基是维持G6PD亚基相互作用的基团。结论 海南汉族、黎族人群中具有共同的常见G6PD基因突变型;与中国其它地区人群的G6PD基因突变谱比较,结果表明某些G6PD基因突变广泛分布于中国南方不同地区人群中;G6PD第279位苏氨酸残基的可能是维持G6PD亚基相互作用及酶活性的必需基团。     

慢性常压缺氧和缺氧伴CO_2潴留大鼠红细胞变形能力与膜收缩蛋白的研究

本文测定了慢性常压缺氧（Ⅱ组）、缺氧伴ＣＯ－２潴留（Ⅲ组）及对照组（Ⅰ组）大鼠红细胞变形能力与红细胞膜收缩蛋白二聚体（ＳＰ－Ｄ）和四聚体（ＳＰ－Ｔ）的相对含量。结果表明，Ⅱ、Ⅲ组红细胞变形指数（ＤＩ）和ＳＰ－Ｄ、ＳＰ－Ｔ相对含量与Ⅰ组均有显著差异，且Ⅱ、Ⅲ组的ＤＩ与ＳＰ－Ｄ／ＳＰ－Ｔ比值呈显著负相关。提示膜收缩蛋白的异常，可能是导致慢性缺氧和伴ＣＯ－２潴留大鼠红细胞变形能力降低的重要因素之一。