江门市新生儿G6PD缺乏症基因频率

目的了解江门市区新生儿G6PD缺乏症基因频率.方法应用G6PD/6PGD比值法.结果 6312名新生儿(其中男婴3309人,女婴3003人)检出G6PD缺乏症305人,其中男婴183人,女婴122人,G6PD缺乏症基因频率为0.0553.结论江门市新生儿G6PD缺乏症发生率较高,应在新生儿进行常规筛查,以预防因G6PD缺乏而带来一系列疾病.     

1600例早孕夫妇红细胞G6PD检测分析

本文采用Ｇ６ＰＤ荧光斑点试验作定性初筛，Ｇ６ＰＤ／６ＰＧＤ比值法作定量确诊。从１９９６ 年９ 月至１９９８ 年６ 月对珠海地区１６００ 例早孕夫妇进行了红细胞Ｇ６ＰＤ检测。查出不同程度缺乏者７６ 人，检出率为４－７５ ％ 。其中夫妇双方均缺乏者１２ 对，占３１－５８％ ，而且珠海籍的人群发生率最高（８－０９％ ），其它广东籍人群次之（７－７６％ ），非广东籍人群最低（２－１８％ ）。结果表明在该市婚前体格和早孕建卡期开展Ｇ６ＰＤ缺乏症的筛查工作是非常重要的。同时加强孕期保健宣教和指导，提高携带者的防患意识，避免受到氧化性物质的损害，对优生优育同样具有重要意义。     

昆明地区孕妇夫妇G6PD缺乏症的筛查研究

本文采用G6PD/ 6PGD比值法 ,对 1998年 9月～ 2 0 0 1年 8月来我院门诊就诊的 16 97对孕妇夫妇 (共 3394例 )进行G6PD缺乏症筛查。结果表明 :男性G6PD缺乏症发生率为 3 48% ,女性发生率为 5 30 % ,从而得出昆明地区G6PD缺乏症的基因频率为 0 0 34 8。昆明作为此症的高发地区 ,广泛开展孕妇夫妇G6PD缺乏症筛查工作可使临床医生对缺乏症患者进行必要的处理 ,并帮助她们提高防患意识 ,以避免受到氧化物质的损害 ,从而提高优生优育水平。同时 ,本研究表明 ,G6PD/ 6PGD比值法能较为有效地检出女性杂合子 ,建议广泛应用于临床检测。     

7488例育龄人群G6PD缺乏症检查结果分析

目的了解广东地区G6PD缺乏症的发病情况.方法用G6PD/6PGD比值法.对7488例育龄人群进行了红细胞葡萄糖6-磷酸脱氢酶缺乏症临床检测.结果在7488例受检者中,共检出G6PD缺乏者488例,发生率为6.52%.结论广东是G6PD缺乏症的高发区,应在全省各地普及推广G6PD缺乏的大人群筛查,尤其是育龄人群的筛查.     

昆明市新生儿遗传性红细胞G6PD缺乏症基因频率

应用G6PID/6PGD比值法对我院1999年4-7月出生的新生儿进行的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症检测,并确定新生儿中G6PD缺乏症基因频率.结果567名新生儿中(男婴300人,女婴267人)共检出G6PD缺乏症患儿60名(男婴33人,女婴27人).新生儿G6PD缺乏症的基因频率为0.11.女婴中G6PD缺乏症的发生率为10.3%.     

昆明市新生儿遗传性红细胞G6PD缺下基因频率

应用Ｇ６ＰＤ／６ＰＧＤ比值法对我院１９９９年４－７月出生的新生儿进行的葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）缺乏症检测,并确定新生儿中Ｇ６ＰＤ缺乏症基因频率。结果：５６７名新生儿中（男婴３００人,女婴２６７人）共检出Ｇ６ＰＤ缺乏症患儿６０名（男婴３３人,女婴２７人）。新生儿Ｇ６ＰＤ缺乏症的基因频率为０．１１。女婴中Ｇ６ＰＤ缺乏症的发生率为１０．３％。     

昆明地区儿童G6PD缺乏症临床检测

目的对在我院分娩的新生儿及住院儿童(共5715例)其中男3045人,女2670人,进行G6PD缺乏症筛查.方法采用G6PD/6PGD比值法.结果 144例G6PD阳性,男93人,女51人.男性G6PD缺乏症发生率3.05%,女性发生率为 1.91%.结论广泛开展G6PD缺乏症筛查工作,可使临床医生对G6PD缺乏症有进一步的认识 ,并对患者进行必要的处理,以及在今后的临床用药上起着指导作用.     

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。     

应用G6PD／6PGD比值法检测云南勐腊县6-磷酸脱氢酶缺乏症的基因频率

采用G6PD／6PGD法对云南勐腊县123例随机采集的男性血液标末进行了红细胞6-磷酸脱氢酶缺陷的基因频率检测。先用四氮唑蓝纸片法筛选疑诊病例，对筛选出的病例进一步应用四氮唑蓝定量测定法测定G6PD／6PGD比值。结果在检测的123人中，G6PD缺乏者20人，即在此人群中G6PD缺乏的基因频率为0．1626，仍属国内G6PD缺陷高发地区，但显著低于过去报道的0.669。以前国内多数实验室均采用高铁血红蛋白还原试验来进行筛选．由于只能间接测定酶的活性，很易造成假阳性，致报告发病率偏高。本研究使用的四氮唑蓝法特异性较高，结果较可靠。     

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，了是重要的看家酶。Ｇ６ＰＤ缺陷症是人类最常见的遗传性疾病。本仅就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。     

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization of G6PD deficiency among inhabitants of one Mediterranean region-the Dalmatian region of south Croatia. We analyzed 24 unrelated G6PD-deficient male subjects. Molecular testing revealed several different mutations: G6PD Cosenza 9, G6PD Mediterranean 4, G6PD Seattle 3, G6PD Union 3, and G6PD Cassano 1. Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C-->G leading to the amino acid substitution 481 Pro-->Arg and is characterized by moderate enzyme deficiency (class III variant). This study reveals a higher prevalence (37.5%) of the Cosenza mutation in the Dalmatian region than anywhere else previously investigated and overall shows the considerable molecular heterogeneity underlining G6PD deficiency that can be observed in Mediterranean populations.     

广西部分地区496例G6PD基因检测结果分析

目的了解广西地区汉族与少数民族新生儿G6PD基因突变谱,探讨基因型与酶活性关系。方法对2012年496例新生儿筛查召回病例及门诊疑似患儿,采用G6PD/6PGD比值法检测酶活性,采用Sanger测序法检测基因突变,统计其突变频率。结果 496例样本G6PD基因检测发现13个基因突变位点,热点突变c.95A〉G,c.392G〉T,c.1024C〉T,c.871G〉A,c.1376G〉T,c.1388G〉A占97%以上,国内c.871G〉A少见,但在广西地区仅次于热点突变,占5.8%。此外,c.406C〉T、c.1360C〉T只在壮族人群中存在,各出现2例。结论广西地区热点突变基因与国内报道一致,但其它突变位点有其地理与民族特点。     

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is one of the most common X‐linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity‐confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.     

佛山地区小儿G6PD常见基因突变型的临床研究

目的　探讨佛山地区小儿G6PD缺乏症患儿基因突变类型。方法　使用突变特异性扩增系统 (ampliticationre fractorymutationsystem ,ARMS)方法测定经G6PD/ 6磷酸葡萄糖酸脱氢酶 (6PGD)比值法二次验证的患儿 4 0例静脉血。结果　4 0例G6PD缺乏症标本男 39例 ,女 1例。经ARMS方法分析 3种已知突变。其中G1388A突变 17例 ,占 4 5 % ;G1376T突变 10例 ,占 2 5 % ;A95G突变 3例 ,占 7.5 % ,未定型 10例 ,3种常见突变共计 30例 ,占 75 %。结论　G6PD基因突变型G1388A、G1376T及A95G也是佛山地区G6PD缺乏症的常见基因突变型 ,以G1388A最多见。     

"地贫"合并G6PD缺陷症G6PD活性的实验研究

目的探讨地中海贫血(地贫)及地贫合并G6PD缺陷症的G6PD活性范围,提高女性地贫合并G6PD缺陷者的诊断率。方法用GAP-PCR法检测α-THAL基因:反向点杂交(RDB)法检测β-THAL基因及家系来验证用电泳法发现的各种地贫;用G6PD/6PGD酶直接比值法(紫外比值法)及家系来确诊G6PD缺陷症。结果重型β地贫、HBH病、轻型β、轻型α地贫的G6PD活性分别是正常人的3倍以上、2~3倍、2倍、1.5倍;地贫合并G6PD缺陷的女性杂合子62%以上G6PD活性在正常范围。结论1.地贫合并G6PD缺陷的女性杂合子,若单纯检测G6PD活性,漏诊达62%,用紫外比值法90%可以检出;2.部分地贫合并G6PD缺陷症的女性杂合子,如果G6PD/6PGD比值结果在1.01-1.06之间,做家系G6PD检测或基因检测,可避免漏诊。     

东莞地区2399例育龄夫妇G6PD缺乏症的筛查结果分析

目的了解东莞地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的发病情况。方法用G6PD/6PGD定量比值法对2399例新婚对象进行红细胞G6PD缺乏的临床检测。结果在2399例受检者中,G6PD缺乏者99例,发生率为4.13%（99/2399）。男性51例,占男性受检人数的4.57%（51/1117）;女性48例,占女性受检人数的3.74%（48/1282）。结论东莞地区是G6PD缺乏症的高发区,应在全市各地普及推广G6PD的大人群筛查,尤其是育龄夫妇的筛查。     

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。     

柳州市新生儿筛查检出红细胞G6PD缺陷217例分析

本文通过对柳州市新生儿筛查检出红细胞Ｇ６ＰＤ缺陷２１７例分析，发现Ｇ６ＦＤ缺陷儿血红蛋白、红细胞总数均有不同程度下降，与正常对照组有非常显著性差异（Ｐ＜０．０１）；新生儿黄疸的发生率为４１．４％，黄疸以轻度为主。家系调查证实广西籍为高发人群，患儿母亲Ｇ６ＰＤ缺乏捡出率约７０％，提示女性杂合子存在漏诊，为进一步提高检出率，应对孕产妇进行Ｇ６ＰＤ缺乏症的筛查。     

Molecular variants of G6PD deficiency among certain tribal communities of Orissa,India

This study investigated the extent of molecular heterogeneity of the G6PD enzyme among certain aboriginal (tribal) populations of Orissa, an eastern Indian state, which is hyperendemic for Plasmodium falciparum malaria. A total of 3480 males from 14 tribal communities were screened, and 223 (6.4%) individuals were found to be G6PD deficient. Molecular analysis revealed that 59.2% of deficient individuals had the G6PD Orissa mutation and 37.2% had the G6PD Mediterranean mutation. The presence of G6PD Med has not been previously reported among the tribal populations of Orissa. Interestingly, both G6PD Med and G6PD Orissa were found among communities belonging to the Mundari (Austroasiatic) linguistic group, while G6PD Med was exclusive to Dravidian and G6PD Orissa to Indo-Aryan groups. Erythrocytic G6PD enzyme activity was severely reduced in the case of G6PD Med type (0.64–1.1 IU/g Hb) as well as among the uncharacterized samples, but was moderate in G6PD Orissa type (1.2–3.1 IU/g Hb). Anaemia was moderate among the individuals with G6PD Med mutation and mild among individuals with G6PD Orissa mutations. The prevalence of G6PD deficiency as well as molecular variants of the Gd^– gene is highly heterogeneous among the tribal population of Orissa. The high endemicity of P. falciparum malaria has probably selected two different molecular variants of Gd^– at different points in time, which is discussed.