GR/G6PD比值法对G6PD缺乏症杂合子诊断价值的探讨
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摘要
目的建立一种简便、可靠的G6PD缺乏症杂合子生化检测方法,并初步探讨其在G6PD缺乏症筛查中的诊断价值。
方法在排除地中海贫血、肿瘤、肝病、糖尿病和尿毒症等疾患后,抽取248例非新生儿外周血标本作G6PD酶活性和GR酶活性测定;自然或错配引物介导的聚合酶链反应/限制性内切酶分析130例女性G6PD基因G1376T、G1388A和A95G变异情况。对G6PD显著缺乏的酶切阴性女性分析G6PD基因G871A位点变异情况。用遗传平衡定律计算杂合子的发生率,估计酶切加测序法检出的杂合子在其中所占比例。ROC曲线(receiveroperator characteristic curve,受试者工作特征曲线)法确定G6PD酶直接法和GR/G6PD比值法的最佳工作点(optimal operating point,OOP)。以酶切结合测序的方法为金标准,评价G6PD酶直接法和GR/G6PD比值法对杂合子的诊断价值。各取G6PD酶活性正常、中度缺乏和显著缺乏的三个标本作G6PD酶和GR酶的重复性测定,计算其变异系数。
结果本组G6PD酶直接法的参考值范围为8.47～28.19 IU/gHb,2.7～8.46/gHb为杂合子,≤2.6 IU/gHb为显著缺乏。GR酶的正常值为8.44±2.84IU/gHb。109例男性中有14例G6PD缺乏,基因频率为12.84%。用遗传平衡定律进行评估,139例女性中有32例患者(其中30例杂合子);PCR/限制性内切酶分析加测序在130例女性中检出24例杂合子。2例G6PD酶活性显著缺乏的女性未能确定基因型。
G6PD酶直接法对杂合子的检出率为26.92%,Youden指数为19.23%,调整一致率为62.34%。经ROC曲线法确定GR/G6PD比值≥0.52为杂合子,此时GR/G6PD比值法对杂合子的检出率为84.62%,Youden指数为49.04%,调整一致率为70.17%,ROC曲线下面积为0.766。经配对卡方比较直接法和比值法对杂合子的诊断价值,结合原始数据认为GR/G6PD比值法对杂合子的诊断价值优于G6PD酶直接法。
经ROC曲线法对G6PD酶直接法诊断临界值进行优化,G6PD酶活性≤16.78IU/gHb为杂合子。优化后其对杂合子的检出率为84.62%,Youden指数为40.39%,调整一致率为66.57%,ROC曲线下面积为0.728。经配对卡方比较直接法优化前后对杂合子的诊断价值,结合原始数据认为ROC曲线能够显著改善G6PD酶直接法对杂合子的灵敏度,但不能同时兼顾特异度。
GR/G6PD比值法ROC曲线下面积较G6PD直接法ROC曲线下面积大。G6PD酶和GR酶的重复性测定结果的变异系数大多在5%左右;只有G6PD酶活性显著缺乏组的G6PD活性变异系数较大,但仍在显著缺乏范围。
结论G6PD酶直接法对杂合子的检出率很低,造成很大一部分的杂合子漏诊。ROC曲线法能显著改善G6PD酶活性直接法对杂合子的灵敏度,但无法兼顾特异度。GR/G6PD比值法对杂合子检测的灵敏度与直接法相同,但特异度高于直接法,其诊断价值高于G6PD酶直接法。基因检测作为参照标准是在杂合子检测评价中第一次采用。
OBJECTIVE To establish a simple and reliable biochemical method for glucose-6-phosphate dehydrogenase(G6PD)deficient heterozygote and to evaluate its accuracy in the screening of G6PD deficiency.
METHODS Two hundred and forty-eight venous blood samples were assayed the activity of both G6PD and GR(glutathione reductase).Thalassaemia, tumor,hepatic disease,diabetes,uremia diseases and neonate samples were ruled out.Three common G6PD deficiency gene point mutation in Chinese(G1376T,G1388A and A95G)was detected in one hundred and thirty females by natural primers or mismatched primers mediated polymerase chain raction follwed by restriction endomuclease analysis(PCR/REA).DNA direct sequencing for G871A genotype was taken to PCR/REA(—)female cases with severe deficiency of G6PD activities.The frequency of heterozygote was calculated by Hardy-Weinberg law,to evaluate the percents of heterozygote which was detected by PCR/REA.The optimal operating point(OOP)of GR/G6PD ratio(GGR)and G6PD activity assay(GAA)were determined by receiver operator characteristic(ROC)curve.PCR/REA combined with direct sequencing was the gold standard for G6PD heterozygote.The diagnostic value on G6PD heterozygote of GP/G6PD ratio and G6PD activity assay was confirmed by the results of PCR/REA.Repeated measurement of both G6PD and GR activity was conducted in our study among three groups:G6PD severe deficiency,G6PD heterozygote and normal.Coefficients of variation(CV)were calculated.
Results Normal reference value of G6PD activity in our laboratory: normal was 8.47～28.19IU/gHb,heterozygote was 2.7～8.46IU/gHb,G6PD severe deficient was≤2.6 IU/gHb.While normal reference value of GR activity was 8.44±2.84IU/gHb.Fourteen G6PD deficient cases were detected among 109 male samples,the gene frequency was 12.84%.There were 32 G6PD deficient cases(including 30 heterozygotes)among 130 female calculated by Hardy-weinberg law,and twenty-four heterozygotes were detected by PCR/REA. Two severely deficient female whose genotype were unkown.
The actual detection rate of heterozygote by GAA was 26.92%,its Youden's Index(YI)was 19.23%and adjusted agreement(AA)is 62.34%.The OOP of GGR was set to 0.52 by ROC curve,≥0.52 was heterozygote.The actual detection rate of heterozygote by GGR was 84.62%,YI was 49.04%,AA was 70.17%and the area under a receiver operator characteristic curve(AUC)was 0.766.The GGR was superior to GAA on heterozygote detection under the statistical analysis of McNemar's test.
The OOP of GAA was set to 16.78IU/gHb by ROC curve,≤16.78IU/gHb was heterozygote.The actual detection rate of heterozygote by GAA rose to 84.62%,YI was 40.39%,AA was 66.57%and the AUC was 0.728.ROC curve couldn't only improve the diagnostic value of GAA to heterozygote significantly but also bring about high false positive rate.The AUC of GGR was large than the AUC of GAA.
Most of their coefficient of variation(CV)was about 5%,only the CV of G6PD activity in G6PD deficient group was high but also belonged to severe deficient extent.
Conclusion The detection rate of heterozygote by G6PD activity assy was low,thus many heterozygotes were missed.ROC curve could improve G6PD activity assay's sensitivity to heterozygote,but bring about high false positive.The diagnostic value of GR/G6PD ratio to G6PD heterozygote was superior to G6PD activity assay.Genetic analysis was firstly used as the reference standard in G6PD deficient heterozygote detection.
方法在排除地中海贫血、肿瘤、肝病、糖尿病和尿毒症等疾患后,抽取248例非新生儿外周血标本作G6PD酶活性和GR酶活性测定;自然或错配引物介导的聚合酶链反应/限制性内切酶分析130例女性G6PD基因G1376T、G1388A和A95G变异情况。对G6PD显著缺乏的酶切阴性女性分析G6PD基因G871A位点变异情况。用遗传平衡定律计算杂合子的发生率,估计酶切加测序法检出的杂合子在其中所占比例。ROC曲线(receiveroperator characteristic curve,受试者工作特征曲线)法确定G6PD酶直接法和GR/G6PD比值法的最佳工作点(optimal operating point,OOP)。以酶切结合测序的方法为金标准,评价G6PD酶直接法和GR/G6PD比值法对杂合子的诊断价值。各取G6PD酶活性正常、中度缺乏和显著缺乏的三个标本作G6PD酶和GR酶的重复性测定,计算其变异系数。
结果本组G6PD酶直接法的参考值范围为8.47～28.19 IU/gHb,2.7～8.46/gHb为杂合子,≤2.6 IU/gHb为显著缺乏。GR酶的正常值为8.44±2.84IU/gHb。109例男性中有14例G6PD缺乏,基因频率为12.84%。用遗传平衡定律进行评估,139例女性中有32例患者(其中30例杂合子);PCR/限制性内切酶分析加测序在130例女性中检出24例杂合子。2例G6PD酶活性显著缺乏的女性未能确定基因型。
G6PD酶直接法对杂合子的检出率为26.92%,Youden指数为19.23%,调整一致率为62.34%。经ROC曲线法确定GR/G6PD比值≥0.52为杂合子,此时GR/G6PD比值法对杂合子的检出率为84.62%,Youden指数为49.04%,调整一致率为70.17%,ROC曲线下面积为0.766。经配对卡方比较直接法和比值法对杂合子的诊断价值,结合原始数据认为GR/G6PD比值法对杂合子的诊断价值优于G6PD酶直接法。
经ROC曲线法对G6PD酶直接法诊断临界值进行优化,G6PD酶活性≤16.78IU/gHb为杂合子。优化后其对杂合子的检出率为84.62%,Youden指数为40.39%,调整一致率为66.57%,ROC曲线下面积为0.728。经配对卡方比较直接法优化前后对杂合子的诊断价值,结合原始数据认为ROC曲线能够显著改善G6PD酶直接法对杂合子的灵敏度,但不能同时兼顾特异度。
GR/G6PD比值法ROC曲线下面积较G6PD直接法ROC曲线下面积大。G6PD酶和GR酶的重复性测定结果的变异系数大多在5%左右;只有G6PD酶活性显著缺乏组的G6PD活性变异系数较大,但仍在显著缺乏范围。
结论G6PD酶直接法对杂合子的检出率很低,造成很大一部分的杂合子漏诊。ROC曲线法能显著改善G6PD酶活性直接法对杂合子的灵敏度,但无法兼顾特异度。GR/G6PD比值法对杂合子检测的灵敏度与直接法相同,但特异度高于直接法,其诊断价值高于G6PD酶直接法。基因检测作为参照标准是在杂合子检测评价中第一次采用。
OBJECTIVE To establish a simple and reliable biochemical method for glucose-6-phosphate dehydrogenase(G6PD)deficient heterozygote and to evaluate its accuracy in the screening of G6PD deficiency.
METHODS Two hundred and forty-eight venous blood samples were assayed the activity of both G6PD and GR(glutathione reductase).Thalassaemia, tumor,hepatic disease,diabetes,uremia diseases and neonate samples were ruled out.Three common G6PD deficiency gene point mutation in Chinese(G1376T,G1388A and A95G)was detected in one hundred and thirty females by natural primers or mismatched primers mediated polymerase chain raction follwed by restriction endomuclease analysis(PCR/REA).DNA direct sequencing for G871A genotype was taken to PCR/REA(—)female cases with severe deficiency of G6PD activities.The frequency of heterozygote was calculated by Hardy-Weinberg law,to evaluate the percents of heterozygote which was detected by PCR/REA.The optimal operating point(OOP)of GR/G6PD ratio(GGR)and G6PD activity assay(GAA)were determined by receiver operator characteristic(ROC)curve.PCR/REA combined with direct sequencing was the gold standard for G6PD heterozygote.The diagnostic value on G6PD heterozygote of GP/G6PD ratio and G6PD activity assay was confirmed by the results of PCR/REA.Repeated measurement of both G6PD and GR activity was conducted in our study among three groups:G6PD severe deficiency,G6PD heterozygote and normal.Coefficients of variation(CV)were calculated.
Results Normal reference value of G6PD activity in our laboratory: normal was 8.47～28.19IU/gHb,heterozygote was 2.7～8.46IU/gHb,G6PD severe deficient was≤2.6 IU/gHb.While normal reference value of GR activity was 8.44±2.84IU/gHb.Fourteen G6PD deficient cases were detected among 109 male samples,the gene frequency was 12.84%.There were 32 G6PD deficient cases(including 30 heterozygotes)among 130 female calculated by Hardy-weinberg law,and twenty-four heterozygotes were detected by PCR/REA. Two severely deficient female whose genotype were unkown.
The actual detection rate of heterozygote by GAA was 26.92%,its Youden's Index(YI)was 19.23%and adjusted agreement(AA)is 62.34%.The OOP of GGR was set to 0.52 by ROC curve,≥0.52 was heterozygote.The actual detection rate of heterozygote by GGR was 84.62%,YI was 49.04%,AA was 70.17%and the area under a receiver operator characteristic curve(AUC)was 0.766.The GGR was superior to GAA on heterozygote detection under the statistical analysis of McNemar's test.
The OOP of GAA was set to 16.78IU/gHb by ROC curve,≤16.78IU/gHb was heterozygote.The actual detection rate of heterozygote by GAA rose to 84.62%,YI was 40.39%,AA was 66.57%and the AUC was 0.728.ROC curve couldn't only improve the diagnostic value of GAA to heterozygote significantly but also bring about high false positive rate.The AUC of GGR was large than the AUC of GAA.
Most of their coefficient of variation(CV)was about 5%,only the CV of G6PD activity in G6PD deficient group was high but also belonged to severe deficient extent.
Conclusion The detection rate of heterozygote by G6PD activity assy was low,thus many heterozygotes were missed.ROC curve could improve G6PD activity assay's sensitivity to heterozygote,but bring about high false positive.The diagnostic value of GR/G6PD ratio to G6PD heterozygote was superior to G6PD activity assay.Genetic analysis was firstly used as the reference standard in G6PD deficient heterozygote detection.
引文
[1]BeutlerE.G6PDdeficiency.Blood,1994;84(11):3613-3636.
[2]Kaplan M,Hammerman C.Glucose-6-phosphate dehydrogenase deficiency:a hidden risk for kernicterus.Semin Perinatol,2004;28(5):356-64.
[3]刘义,刘明良,刘敏,等.南宁所见27例新生儿胆红素脑病临床分析.广西医学,2002;24(9):1348-1351.
[4]麦智广,梁少霞.葡萄糖6-磷酸脱氢酶缺陷所致新生儿胆红素脑病34例.中华儿科杂志,1996;34(5):346.
[5]American Academy of Pediatrics Subcommittee on Hyperbilirubinemia.Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation.Pediatrics,2004;114(1):297-316.
[6]杜传书.我国葡萄糖-6-磷酸脱氢酶缺乏症研究40年的回顾和展望.中华血液学杂志,2000;21(4):174-175.
[7]Toncheva D,Tzoneva M.Prenatal selection and fetal development disturbances occurring in carriers of G6PD deficiency.Hum Genet,1985;69(1):88.
[8]Longo L,Vanegas OC,Patel M et al.Maternally transmitted severe glucose-6-phosphate dehydrogenase deficiency is an embryonic lethal.EMBO J,2002;21(16):4229-4239.
[9]许延康,吴秋玲,芮琳等.对红细胞葡萄糖-6-磷酸脱氢酶活性的几种筛选方法的评价.中山医科大学学报,1980;1(2):177-181.
[10]Pujades A,Lewis M,Salvati AM,et al.Evaluation of the blue formazan spot test for screening glucose 6 phosphate dehydrogenase deficiency.Int J Hematol 1999;69(4):234-236.
[11]Zaffanello M,Rugolotto S,Zamboni G,et al.Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.Eur J Epidemiol,2004;19(3):255-257.
[12]Meloni T,Forteleoni G,Dore A,et al.Neonatal hyperbilirubinaemia in heterozygous glucose-6-phosphate dehydrogenase deficient females.Br J Haematol,1983;53(2):241-6
[13]Kaplan M,Hammerman C,Vreman HJ,et al.Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.J Pediatr,2001;139(1):137-140.
[14]Kaplan M,Beulter E,Vreman HJ,et al.Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.Pediatrics,1999;104(1):68-74.
[15]官希吉,俞水娟,彭秋香,等.围产儿红细胞葡萄糖-6-磷酸脱氢酶缺陷症发病的防治研究.广东医学,1984;5(6):1-5.
[16]A single dose of sn-mesoporphyrin prevents newborns development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient newborns.Pediatrics,2001;108(1):25-30.
[17]王菁,杜传书.葡萄糖-6-磷酸脱氢酶缺乏致新生儿黄疸溶血机理探讨 I 抗氧化红细胞酶活性分析.中山医科大学学报,1990;11(2):28-31.
[18]Flatz G.Enhanced Binding of FAD to Glutathione Reductase in G6PD deficiency.Nature,1970;226:755
[19]Yawata BY,Tanaka KR.Regulatory Mechanism of Glutathione Reductase Activity in Human Red Cells.Blood,1974;43(1):99-109.
[20]Morelli A,Benatti U,Lenzerini L,et al.The interference of leukocytes and platelet with measurement of glucose-6-phosphate dehydrogenase activityof erythrocytes with low activity variants of the enzyme.Blood 1981; 58:642-4.
[21]Beutler,E.Red Cell Metabolism:A Manual of Biochemical Methods 2nd ed Grune and Stratton,New York,1975;10,21166-71.
[22]Standardization of procedures for the study of glucose-6-phosphate dehydrogenase.Report of a WHO Scientific Group.World Health Organ Tech Rep Ser.1967;366:1-53.
[23]吴耀生主编.新编生物化学实验.人民卫生出版社.2002;80-81.
[24]罗建明,李幕军,唐霞等.变性高效液相联合测序及酶切检测广西葡萄糖.6-磷酸脱氢酶缺乏症的基因型.中华血液学杂志,2005;26(10):607-611.
[25]陈竺主编.医学遗传学.人民卫生出版社.2001;101-104.
[26]David O,Einaudi S,Vota MG,et al.The glucose-6-phosphate dehydrogenase/6-phosphogluconate dehydrogenase ratio in the identification of glucose-6-phosphate dehydrogenase heterozygosity.La Pediatria medica e chirurgica:Medical and surgical pediatrics,1986;8(1):15-20.
[27]杜传书.红细胞葡萄糖-6-磷酸脱氢酶缺乏症检测的G6PD/6PGD比值法.优生与遗传.1991;1(4):1-3.
[28]Mosca A,Paleari R,Rosti E,et al.Simultaneous automated determination of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood.Eur J Clin Chem Clin Biochem 1996;34:431-438.
[29]Wolf BH,Weening RS,Schutgens RB et al.Detection of glucose 6phosphate dehydrogenase deficiency in erythrocytes:a spectrophotometric assay and a fluorescent spot test compared with a cytochemical method.Clin Chim Acta 1987;168(2):129-136.
[30]Tagarelli A,Piro A,Tagarelli G,et al.G6PD/PK ratio:a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects.Clinical biochemistry,2004;37(10):863-866.
[31]Kaddari F,Sawadogo M,Sancho J,et al.Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood.Annales de biologie clinique,2004;62(4):446-450.
[32]任锡麟,修瑾,何燕,等.少数民族葡萄糖-6-磷酸脱氢酶基因突变检测.中国公共卫生,2004;20(6):672-673.
[33]刘军,叶毅桦,黄丽贞.新生儿脐血红细胞葡萄糖6磷酸脱氢酶缺乏筛查结果分析.中华围产医学杂志.2004;7(3):163.164.
[34]Lestas AN,Rodeck CH.Normal glutathione content and some related enzyme activities in the fetal erythrocytes.Br J Haematol.1984;57(4):695-702.
[35]Yagarelli A,Piro A,Bastone L,et al.Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia.FEBS LETTERS.2000;466(1):139-142.
[36]陈冬,陈和平,梁玲.G6PD活性检测在地中海贫血诊断中的意义.中国优生与遗传杂志.2007;15(1):27-28.
[37]K.T.LEE,I.K.TAN,A.M.SEET.A new colorimetric method for the determination of NADH/NADPH dependent glutathione reductase in erythrocytes and in plasma.Clin chim acta.1975;58:101-108.
[38]Kaplan JC.Electrophoretic Study of Glutathione Reductase in Human Erythrocytes and Leucocytes.Nature.1968;217:256-258.
[39]庄佳骠.红细胞酶测定法及中国人正常值Ⅲ谷胱甘肽还原酶.病理生理学报,1985;1(3):57-59
[40]Beulter E.Effect of Flavin Compounds on Glutathione Reductase Activity: In Vivo and In Vitro Studies.J Clin Invest.1969;48:1957-1966.
[41]吴坤,孙秀发.营养与食品卫生学.人民卫生出版社.2004;73-75.
[42]陈兴乐,唐振柱,韩彦彬等.广西居民膳食营养状况调查.中国公共卫生,2005;21(12):1476-1478.
[43]葛可佑,翟凤英,阎怀成.第三次全国营养调查报告.卫生研究,1996;25suppl:3-15.
[44]杨伟宗,殷怡静,沈斐纳等.红细胞谷胱甘肽还原酶活性的测定.临床检验杂志,1988;6(1):11-12.
[45]杜传书.红细胞 6-磷酸葡萄糖脱氢酶活性测定及临床应用.输血及血液学.1979;2:31-34.
[46]杜传书,芮琳.红细胞葡萄糖-6-磷酸脱氢酶活性的四氮唑蓝定量测定法.中华血液学杂志,1981;2(3):188-192.
[47]杜传书,许延康,胡修原.蚕豆病.北京:人民卫生出版社,1987;187-189.
[48]吕群,王勇,陈赤等.男性新生儿红细胞葡萄糖-6-磷酸脱氢酶活性中度缺乏的探讨.中国新生儿科杂志,2006;21(4):197-200.
[49]孙振球,徐勇勇.医学统计学.人民卫生出版社.第2版2005;637-659.
[50]Greiner M,Pfeiffer D,Smith RD.Principles and practical application of the receiver-operating characteristic analysis for diagnostic tests.Preventive Veterinary Medicine.2000;45:23-41.
[51]Shapiro DE.The interpretation of diagnostic tests.Statistical Method in Medical Research.1999;8:113-134.
[52]陈卫中,潘晓平,宋兴勃,等.ROC曲线中最佳工作点的选择.中国卫生统计.2006;23(2):157-158.
[53]Chang JG,Liu TC.Glucose-6-phosphate dehydrogenase deficiency.Critial Reviews in Oncology/Hematology.1995;20:1-7.
[54]Chang JG,Chion SS,Pemg LI et al.Molecular Characterization of Glucose-6-Phosphate Dehydrogenase(G6PD)Deficiency by Natural and Amplification Created Restriction Sites:FiveMutations Account for Most G6PD Deficiency Cases in Taiwan.Blood,1992;80(4):1079-1082.
[55]Laosombat V,Sattayasevana B,Chotsampancharoen T,et al.Glucose 6Phosphate Dehydrogenase Variants Associated with Favism in Thai land Children.International journal of Hematology,2006;83:139-143.
[56]郑敏,罗建明.广西地区葡萄糖-6-磷酸脱氢酶缺乏症的流行病学调查和基因突变型鉴定.临床荟萃.2006;21(11):775-777.
[57]谢建生,龙桂芳,唐智宁,等.广西地区葡萄糖-6-磷酸脱氢酶缺陷症基因突变研究.中华医学遗传学杂志.1998;15(3):151-154.
[58]Yah TZ,Cai R,Mo QH,et al.Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of south China:description of four novel mutations,haematologica.2006;91(10):1321-1328.
[59]李家增,王鸿利,韩忠朝.血液实验学.上海科学技术出版社.1997;635-652.
[1]BeutlerE.G6PD deficiency.Blood,1994;84(11):3613-3636.
[2]Yoncheva D,Tzoneva M.Prenatal selection and fetal development disturbances occurring in carriers of G6PD deficiency.Hum Genet,1985;69(1):88.
[3]杜传书.我国葡萄糖-6-磷酸脱氢酶缺乏症研究40年的回顾和展望.中华血液学杂志,2000;21(4):174-175.
[4]Beutler E,Vulliamy TJ.Hematologically important mutations:glucose 6phosphate dehydrogenase.Blood cells,molecules,and diseases,2002;28(2):93-103.
[5]郑敏,罗建明.葡萄糖-6-磷酸脱氢酶基因突变的研究进展.医学综述,2005;11(3):266-268.
[6]谢建生,龙桂芳,唐智宁,等.广西地区葡萄糖-6-磷酸脱氢酶缺陷症基因突变的研究.中华医学遗传学杂志,1998;15(6):151-154.
[7]杜传书,任晓琴,江悦华,等.应用ARMS法检测广东省常见的三种葡萄糖-6-磷酸脱氢酶基因点突变.中华血液学杂志,1999;20(4):191-193.
[8]Chang JG,Chion SS,Perng LI et al.Molecular Characterization of Glucose -6-Phosphate Dehydrogenase(G6PD)Deficiency by Natural and Amplification Created Restriction Sites:FiveMutations Account for Most G6PD Deficiency Cases in Taiwan.Blood,1992;80(4):1079-1082.
[9]Kaplan M,Beulter E,Vreman HJ,et al.Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.Pediatrics,1999;104(1):68-74.
[10]Lyon MF.Gene action in the X-chromosome of the mouse(Mus musculus L).Nature,1961;190(4773):372-373.
[11]Zaffanello M,Rugolotto S,Zamboni G,et al.Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.Eur J Epidemiol,2004;19(3):255-257.
[12]Kaplan M,Hammerman C,Vreman HJ,et al.Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.J Pediatr,2001;139(1):137-140.
[13]杜传书.蚕豆病病因发病机理探讨Ⅲ红细胞-6-磷酸葡萄糖脱氢酶杂合子的研究.遗传学报,1974;1(1):92-98.
[14]Kaplan M,Hammerman C.Glucose-6-phosphate dehydrogenase Deficiency:a hidden risk for kernicterus.Semin Perinatol,2004;28(5):356-64.
[15]American Academy of Pediatrics Subcommittee on Hyperbilirubinemia.Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation.Pediatrics,2004;114(1):297-316.
[16]刘义,刘明良,刘敏,等.南宁所见27例新生儿胆红素脑病临床分析.广西医学,2002;24(9):1348-1351.
[17]麦智广,梁少霞.葡萄糖6-磷酸脱氢酶缺陷所致新生儿胆红素脑病34例.中华儿科杂志,1996;34(5):346.
[18]杜传书,许延康,胡修平.蚕豆病.人民卫生出版社.1987;141-142.
[19]杜传书,芮琳.红细胞葡萄糖-6-磷酸脱氢酶活性的四氮唑蓝定量定量测定法.中华血液学杂志,1981;2(3):188-192.
[20]Sanpavat S,Nuchprayoon I,Kittikalayawong A,et al.The value of methemoglobin reduction test as a screening test for neonatal glucose 6phosphate dehydrogenase deficiency.J Med Assoc Thai.2001;84 Suppl 1:S91-8. 方法的评价.中山医学院学报,1980;1(2)177-181.
[22]张兆磷,余莲,任家智,等.HbH病高铁血红蛋白还原假阳性的克服方法.临床检验杂志,1988;6(1):54.
[23]罗建明等.红细胞平均血红蛋白对高铁血红蛋白还原试验的影响.中华血液学杂志,1992;13(10):547-548.
[24]罗建明,唐霞.高铁血红蛋白还原试验的再改进.中华血液学杂志,1998;19(10):548.
[25]Beulter E.A Series of New Screening Procedures for Pyruvate Kinase Deficiency,Glucose-6-phosphate dehydrogenase Deficiency,and Glutathione reductase Deficiency.1966;28(4):553-562.
[26]Solem E,Pirzer C,Siege M.Mass screening for glucose-6-phosphate dehydrogenase deficiency:improved fluorescent spot test.Clin Chim Acta.1985;15.2(1-2):135-42.
[27]谢彦晖,等.G6PD荧光斑点法检测影响因素的探讨.上海医学检验杂志,1995;10(1):1-2.
[28]Gurbuz N,Aksu TA,Van Noorden CJF.Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency.Acta histochemica 2005;107:261-267.
[29]Fan YH,Lazenbery LA,Foster E.Improved quantitative method for G6PD deficiency detection.J Clin Lab Anal.2007;21(2):107-13.
[30]杜传书.红细胞葡萄糖-6-磷酸脱氢酶缺乏症检测的G6PD/6PGD比值法.优生与遗传,1991;1(4):1-3.
[31]David O,Einaudi S,Vota MG,et al.The glucose-6-phosphate dehydrogenase/6-phosphogluconate dehydrogenase ratio in the identification of glucose-6-phosphate dehydrogenase heterozygosity.La Pediatria medica e chirurgica:Medical and surgical pediatrics,1986;8(1):15-20.
[32]Mosca A,Paleari R,Rosti E,et al.Simultaneous automated determination of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood.Eur J Clin Chem Clin Biochem 1996;34:431-438.
[33]Wolf BH,Weening RS,Schutgens RB et al.Detection of glucose 6phosphate dehydrogenase deficiency in erythrocytes:a spectrophotometric assay and a fluorescent spot test compared with a cytochemical method.Clin Chim Acta 1987;168(2):129-136.
[34]Yagarelli A,Piro A,Tagarelli G,et al.G6PD/PK ratio:a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects.Clinical biochemistry,2004;37(10):863-866.
[35]Kaddari F,Sawadogo M,Sancho J,et al.Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood.Annales de biologic clinique,2004;62(4):446-450.
[36]罗建明.G-6-PD试纸的特点和应用.中国小儿血液,1998;3(3):134-135.
[37]蔡燕芬,蒋迎佳,杨涛.G6PD试纸法与G6PD/6PGD比值法的对照研究.中国优生与遗传杂志.2003;11(6):46,83.
[38]尹济群,张学军,冯敬池.红细胞葡萄糖-6-磷酸脱氢酶的速率法全自动分析.河北中西医结合杂志.1996;5(1):14-15.
[39]陈普祺,余艳云,陈泰祺,等.红细胞葡萄糖-6-磷酸脱氢酶单次洗涤快速动力学分析新方法.医学研究通讯.1999;28(4):16-19.
[40]Fairbanks VF,Lampe LT.A tetrazolium-linked cytochemical method for estimation of Glucose-6-phosphate dehydrogenase activity in individual erythrocytes:Applications in the study of heterozygotes for Glucose 6phosphate dehydrogenasedeficiency.Blood,1968;31:589-603.
[41]罗建明,李幕军,唐霞.变性高效液相和测序或限制性内切酶检测广西G6PD缺乏症的基因型.中华血液学杂志,2005;26(10):607-611.
[42]Lain VM,Huang M,Lam ST.Rapid detection of common Chinese glucose -6-phosphate dehydrogenase(G6PD)mutations by denaturing gradient gel electrophoresis(DGGE).Genet Anal.1996;12(5-6):201-6.
[43]叶文红,杜传书.应用变性高效液相色谱法检测葡萄糖262磷酸脱氢酶缺乏症的三种常见基因突变.中华血液学杂志.2005;26(10):629-630.
[44]Yseng CP,Huang CL,Chong KY.Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography.Clin Biochem 2005;38(11):973-80.
[45]Zhao F,Ou XL,Xu CC,et al.Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.Blood Cells,Molecules,& Diseases.2004;32:315-318.
[2]Kaplan M,Hammerman C.Glucose-6-phosphate dehydrogenase deficiency:a hidden risk for kernicterus.Semin Perinatol,2004;28(5):356-64.
[3]刘义,刘明良,刘敏,等.南宁所见27例新生儿胆红素脑病临床分析.广西医学,2002;24(9):1348-1351.
[4]麦智广,梁少霞.葡萄糖6-磷酸脱氢酶缺陷所致新生儿胆红素脑病34例.中华儿科杂志,1996;34(5):346.
[5]American Academy of Pediatrics Subcommittee on Hyperbilirubinemia.Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation.Pediatrics,2004;114(1):297-316.
[6]杜传书.我国葡萄糖-6-磷酸脱氢酶缺乏症研究40年的回顾和展望.中华血液学杂志,2000;21(4):174-175.
[7]Toncheva D,Tzoneva M.Prenatal selection and fetal development disturbances occurring in carriers of G6PD deficiency.Hum Genet,1985;69(1):88.
[8]Longo L,Vanegas OC,Patel M et al.Maternally transmitted severe glucose-6-phosphate dehydrogenase deficiency is an embryonic lethal.EMBO J,2002;21(16):4229-4239.
[9]许延康,吴秋玲,芮琳等.对红细胞葡萄糖-6-磷酸脱氢酶活性的几种筛选方法的评价.中山医科大学学报,1980;1(2):177-181.
[10]Pujades A,Lewis M,Salvati AM,et al.Evaluation of the blue formazan spot test for screening glucose 6 phosphate dehydrogenase deficiency.Int J Hematol 1999;69(4):234-236.
[11]Zaffanello M,Rugolotto S,Zamboni G,et al.Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.Eur J Epidemiol,2004;19(3):255-257.
[12]Meloni T,Forteleoni G,Dore A,et al.Neonatal hyperbilirubinaemia in heterozygous glucose-6-phosphate dehydrogenase deficient females.Br J Haematol,1983;53(2):241-6
[13]Kaplan M,Hammerman C,Vreman HJ,et al.Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.J Pediatr,2001;139(1):137-140.
[14]Kaplan M,Beulter E,Vreman HJ,et al.Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.Pediatrics,1999;104(1):68-74.
[15]官希吉,俞水娟,彭秋香,等.围产儿红细胞葡萄糖-6-磷酸脱氢酶缺陷症发病的防治研究.广东医学,1984;5(6):1-5.
[16]A single dose of sn-mesoporphyrin prevents newborns development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient newborns.Pediatrics,2001;108(1):25-30.
[17]王菁,杜传书.葡萄糖-6-磷酸脱氢酶缺乏致新生儿黄疸溶血机理探讨 I 抗氧化红细胞酶活性分析.中山医科大学学报,1990;11(2):28-31.
[18]Flatz G.Enhanced Binding of FAD to Glutathione Reductase in G6PD deficiency.Nature,1970;226:755
[19]Yawata BY,Tanaka KR.Regulatory Mechanism of Glutathione Reductase Activity in Human Red Cells.Blood,1974;43(1):99-109.
[20]Morelli A,Benatti U,Lenzerini L,et al.The interference of leukocytes and platelet with measurement of glucose-6-phosphate dehydrogenase activityof erythrocytes with low activity variants of the enzyme.Blood 1981; 58:642-4.
[21]Beutler,E.Red Cell Metabolism:A Manual of Biochemical Methods 2nd ed Grune and Stratton,New York,1975;10,21166-71.
[22]Standardization of procedures for the study of glucose-6-phosphate dehydrogenase.Report of a WHO Scientific Group.World Health Organ Tech Rep Ser.1967;366:1-53.
[23]吴耀生主编.新编生物化学实验.人民卫生出版社.2002;80-81.
[24]罗建明,李幕军,唐霞等.变性高效液相联合测序及酶切检测广西葡萄糖.6-磷酸脱氢酶缺乏症的基因型.中华血液学杂志,2005;26(10):607-611.
[25]陈竺主编.医学遗传学.人民卫生出版社.2001;101-104.
[26]David O,Einaudi S,Vota MG,et al.The glucose-6-phosphate dehydrogenase/6-phosphogluconate dehydrogenase ratio in the identification of glucose-6-phosphate dehydrogenase heterozygosity.La Pediatria medica e chirurgica:Medical and surgical pediatrics,1986;8(1):15-20.
[27]杜传书.红细胞葡萄糖-6-磷酸脱氢酶缺乏症检测的G6PD/6PGD比值法.优生与遗传.1991;1(4):1-3.
[28]Mosca A,Paleari R,Rosti E,et al.Simultaneous automated determination of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood.Eur J Clin Chem Clin Biochem 1996;34:431-438.
[29]Wolf BH,Weening RS,Schutgens RB et al.Detection of glucose 6phosphate dehydrogenase deficiency in erythrocytes:a spectrophotometric assay and a fluorescent spot test compared with a cytochemical method.Clin Chim Acta 1987;168(2):129-136.
[30]Tagarelli A,Piro A,Tagarelli G,et al.G6PD/PK ratio:a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects.Clinical biochemistry,2004;37(10):863-866.
[31]Kaddari F,Sawadogo M,Sancho J,et al.Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood.Annales de biologie clinique,2004;62(4):446-450.
[32]任锡麟,修瑾,何燕,等.少数民族葡萄糖-6-磷酸脱氢酶基因突变检测.中国公共卫生,2004;20(6):672-673.
[33]刘军,叶毅桦,黄丽贞.新生儿脐血红细胞葡萄糖6磷酸脱氢酶缺乏筛查结果分析.中华围产医学杂志.2004;7(3):163.164.
[34]Lestas AN,Rodeck CH.Normal glutathione content and some related enzyme activities in the fetal erythrocytes.Br J Haematol.1984;57(4):695-702.
[35]Yagarelli A,Piro A,Bastone L,et al.Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia.FEBS LETTERS.2000;466(1):139-142.
[36]陈冬,陈和平,梁玲.G6PD活性检测在地中海贫血诊断中的意义.中国优生与遗传杂志.2007;15(1):27-28.
[37]K.T.LEE,I.K.TAN,A.M.SEET.A new colorimetric method for the determination of NADH/NADPH dependent glutathione reductase in erythrocytes and in plasma.Clin chim acta.1975;58:101-108.
[38]Kaplan JC.Electrophoretic Study of Glutathione Reductase in Human Erythrocytes and Leucocytes.Nature.1968;217:256-258.
[39]庄佳骠.红细胞酶测定法及中国人正常值Ⅲ谷胱甘肽还原酶.病理生理学报,1985;1(3):57-59
[40]Beulter E.Effect of Flavin Compounds on Glutathione Reductase Activity: In Vivo and In Vitro Studies.J Clin Invest.1969;48:1957-1966.
[41]吴坤,孙秀发.营养与食品卫生学.人民卫生出版社.2004;73-75.
[42]陈兴乐,唐振柱,韩彦彬等.广西居民膳食营养状况调查.中国公共卫生,2005;21(12):1476-1478.
[43]葛可佑,翟凤英,阎怀成.第三次全国营养调查报告.卫生研究,1996;25suppl:3-15.
[44]杨伟宗,殷怡静,沈斐纳等.红细胞谷胱甘肽还原酶活性的测定.临床检验杂志,1988;6(1):11-12.
[45]杜传书.红细胞 6-磷酸葡萄糖脱氢酶活性测定及临床应用.输血及血液学.1979;2:31-34.
[46]杜传书,芮琳.红细胞葡萄糖-6-磷酸脱氢酶活性的四氮唑蓝定量测定法.中华血液学杂志,1981;2(3):188-192.
[47]杜传书,许延康,胡修原.蚕豆病.北京:人民卫生出版社,1987;187-189.
[48]吕群,王勇,陈赤等.男性新生儿红细胞葡萄糖-6-磷酸脱氢酶活性中度缺乏的探讨.中国新生儿科杂志,2006;21(4):197-200.
[49]孙振球,徐勇勇.医学统计学.人民卫生出版社.第2版2005;637-659.
[50]Greiner M,Pfeiffer D,Smith RD.Principles and practical application of the receiver-operating characteristic analysis for diagnostic tests.Preventive Veterinary Medicine.2000;45:23-41.
[51]Shapiro DE.The interpretation of diagnostic tests.Statistical Method in Medical Research.1999;8:113-134.
[52]陈卫中,潘晓平,宋兴勃,等.ROC曲线中最佳工作点的选择.中国卫生统计.2006;23(2):157-158.
[53]Chang JG,Liu TC.Glucose-6-phosphate dehydrogenase deficiency.Critial Reviews in Oncology/Hematology.1995;20:1-7.
[54]Chang JG,Chion SS,Pemg LI et al.Molecular Characterization of Glucose-6-Phosphate Dehydrogenase(G6PD)Deficiency by Natural and Amplification Created Restriction Sites:FiveMutations Account for Most G6PD Deficiency Cases in Taiwan.Blood,1992;80(4):1079-1082.
[55]Laosombat V,Sattayasevana B,Chotsampancharoen T,et al.Glucose 6Phosphate Dehydrogenase Variants Associated with Favism in Thai land Children.International journal of Hematology,2006;83:139-143.
[56]郑敏,罗建明.广西地区葡萄糖-6-磷酸脱氢酶缺乏症的流行病学调查和基因突变型鉴定.临床荟萃.2006;21(11):775-777.
[57]谢建生,龙桂芳,唐智宁,等.广西地区葡萄糖-6-磷酸脱氢酶缺陷症基因突变研究.中华医学遗传学杂志.1998;15(3):151-154.
[58]Yah TZ,Cai R,Mo QH,et al.Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of south China:description of four novel mutations,haematologica.2006;91(10):1321-1328.
[59]李家增,王鸿利,韩忠朝.血液实验学.上海科学技术出版社.1997;635-652.
[1]BeutlerE.G6PD deficiency.Blood,1994;84(11):3613-3636.
[2]Yoncheva D,Tzoneva M.Prenatal selection and fetal development disturbances occurring in carriers of G6PD deficiency.Hum Genet,1985;69(1):88.
[3]杜传书.我国葡萄糖-6-磷酸脱氢酶缺乏症研究40年的回顾和展望.中华血液学杂志,2000;21(4):174-175.
[4]Beutler E,Vulliamy TJ.Hematologically important mutations:glucose 6phosphate dehydrogenase.Blood cells,molecules,and diseases,2002;28(2):93-103.
[5]郑敏,罗建明.葡萄糖-6-磷酸脱氢酶基因突变的研究进展.医学综述,2005;11(3):266-268.
[6]谢建生,龙桂芳,唐智宁,等.广西地区葡萄糖-6-磷酸脱氢酶缺陷症基因突变的研究.中华医学遗传学杂志,1998;15(6):151-154.
[7]杜传书,任晓琴,江悦华,等.应用ARMS法检测广东省常见的三种葡萄糖-6-磷酸脱氢酶基因点突变.中华血液学杂志,1999;20(4):191-193.
[8]Chang JG,Chion SS,Perng LI et al.Molecular Characterization of Glucose -6-Phosphate Dehydrogenase(G6PD)Deficiency by Natural and Amplification Created Restriction Sites:FiveMutations Account for Most G6PD Deficiency Cases in Taiwan.Blood,1992;80(4):1079-1082.
[9]Kaplan M,Beulter E,Vreman HJ,et al.Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.Pediatrics,1999;104(1):68-74.
[10]Lyon MF.Gene action in the X-chromosome of the mouse(Mus musculus L).Nature,1961;190(4773):372-373.
[11]Zaffanello M,Rugolotto S,Zamboni G,et al.Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.Eur J Epidemiol,2004;19(3):255-257.
[12]Kaplan M,Hammerman C,Vreman HJ,et al.Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase deficient heterozygotes.J Pediatr,2001;139(1):137-140.
[13]杜传书.蚕豆病病因发病机理探讨Ⅲ红细胞-6-磷酸葡萄糖脱氢酶杂合子的研究.遗传学报,1974;1(1):92-98.
[14]Kaplan M,Hammerman C.Glucose-6-phosphate dehydrogenase Deficiency:a hidden risk for kernicterus.Semin Perinatol,2004;28(5):356-64.
[15]American Academy of Pediatrics Subcommittee on Hyperbilirubinemia.Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation.Pediatrics,2004;114(1):297-316.
[16]刘义,刘明良,刘敏,等.南宁所见27例新生儿胆红素脑病临床分析.广西医学,2002;24(9):1348-1351.
[17]麦智广,梁少霞.葡萄糖6-磷酸脱氢酶缺陷所致新生儿胆红素脑病34例.中华儿科杂志,1996;34(5):346.
[18]杜传书,许延康,胡修平.蚕豆病.人民卫生出版社.1987;141-142.
[19]杜传书,芮琳.红细胞葡萄糖-6-磷酸脱氢酶活性的四氮唑蓝定量定量测定法.中华血液学杂志,1981;2(3):188-192.
[20]Sanpavat S,Nuchprayoon I,Kittikalayawong A,et al.The value of methemoglobin reduction test as a screening test for neonatal glucose 6phosphate dehydrogenase deficiency.J Med Assoc Thai.2001;84 Suppl 1:S91-8. 方法的评价.中山医学院学报,1980;1(2)177-181.
[22]张兆磷,余莲,任家智,等.HbH病高铁血红蛋白还原假阳性的克服方法.临床检验杂志,1988;6(1):54.
[23]罗建明等.红细胞平均血红蛋白对高铁血红蛋白还原试验的影响.中华血液学杂志,1992;13(10):547-548.
[24]罗建明,唐霞.高铁血红蛋白还原试验的再改进.中华血液学杂志,1998;19(10):548.
[25]Beulter E.A Series of New Screening Procedures for Pyruvate Kinase Deficiency,Glucose-6-phosphate dehydrogenase Deficiency,and Glutathione reductase Deficiency.1966;28(4):553-562.
[26]Solem E,Pirzer C,Siege M.Mass screening for glucose-6-phosphate dehydrogenase deficiency:improved fluorescent spot test.Clin Chim Acta.1985;15.2(1-2):135-42.
[27]谢彦晖,等.G6PD荧光斑点法检测影响因素的探讨.上海医学检验杂志,1995;10(1):1-2.
[28]Gurbuz N,Aksu TA,Van Noorden CJF.Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency.Acta histochemica 2005;107:261-267.
[29]Fan YH,Lazenbery LA,Foster E.Improved quantitative method for G6PD deficiency detection.J Clin Lab Anal.2007;21(2):107-13.
[30]杜传书.红细胞葡萄糖-6-磷酸脱氢酶缺乏症检测的G6PD/6PGD比值法.优生与遗传,1991;1(4):1-3.
[31]David O,Einaudi S,Vota MG,et al.The glucose-6-phosphate dehydrogenase/6-phosphogluconate dehydrogenase ratio in the identification of glucose-6-phosphate dehydrogenase heterozygosity.La Pediatria medica e chirurgica:Medical and surgical pediatrics,1986;8(1):15-20.
[32]Mosca A,Paleari R,Rosti E,et al.Simultaneous automated determination of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood.Eur J Clin Chem Clin Biochem 1996;34:431-438.
[33]Wolf BH,Weening RS,Schutgens RB et al.Detection of glucose 6phosphate dehydrogenase deficiency in erythrocytes:a spectrophotometric assay and a fluorescent spot test compared with a cytochemical method.Clin Chim Acta 1987;168(2):129-136.
[34]Yagarelli A,Piro A,Tagarelli G,et al.G6PD/PK ratio:a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects.Clinical biochemistry,2004;37(10):863-866.
[35]Kaddari F,Sawadogo M,Sancho J,et al.Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood.Annales de biologic clinique,2004;62(4):446-450.
[36]罗建明.G-6-PD试纸的特点和应用.中国小儿血液,1998;3(3):134-135.
[37]蔡燕芬,蒋迎佳,杨涛.G6PD试纸法与G6PD/6PGD比值法的对照研究.中国优生与遗传杂志.2003;11(6):46,83.
[38]尹济群,张学军,冯敬池.红细胞葡萄糖-6-磷酸脱氢酶的速率法全自动分析.河北中西医结合杂志.1996;5(1):14-15.
[39]陈普祺,余艳云,陈泰祺,等.红细胞葡萄糖-6-磷酸脱氢酶单次洗涤快速动力学分析新方法.医学研究通讯.1999;28(4):16-19.
[40]Fairbanks VF,Lampe LT.A tetrazolium-linked cytochemical method for estimation of Glucose-6-phosphate dehydrogenase activity in individual erythrocytes:Applications in the study of heterozygotes for Glucose 6phosphate dehydrogenasedeficiency.Blood,1968;31:589-603.
[41]罗建明,李幕军,唐霞.变性高效液相和测序或限制性内切酶检测广西G6PD缺乏症的基因型.中华血液学杂志,2005;26(10):607-611.
[42]Lain VM,Huang M,Lam ST.Rapid detection of common Chinese glucose -6-phosphate dehydrogenase(G6PD)mutations by denaturing gradient gel electrophoresis(DGGE).Genet Anal.1996;12(5-6):201-6.
[43]叶文红,杜传书.应用变性高效液相色谱法检测葡萄糖262磷酸脱氢酶缺乏症的三种常见基因突变.中华血液学杂志.2005;26(10):629-630.
[44]Yseng CP,Huang CL,Chong KY.Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography.Clin Biochem 2005;38(11):973-80.
[45]Zhao F,Ou XL,Xu CC,et al.Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.Blood Cells,Molecules,& Diseases.2004;32:315-318.