Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathic disease in Taiwan. The mass neonatal screening of G6PD deficiency by fluorometric spot test in Taiwan was started with a pilot program in 1984. The nationwide screening was started on July 1, 1987, and a follow-up system comprising of eighteen referral hospitals, including outlying islands, was organized for confirmatory test, medical care and genetic counseling. From July 1987 to December 1997, 2,971,192 heel blood samples collected on filter paper from 1,143 delivery units were screened by four neonatal screening centers. 46,570 cases were confirmed as G6PD deficiency is estimated to be around 2.1% (male 3.1%, female 0.9%) in Taiwan. The coverage rate of neonatal screening was 99% in 1997. To assess the reliability of the confirmatory test, an external quality assurance (QA) program for G6PD assay was developed. Periodically, 3 or 5 lyophilized quality control materials with different activities of G6PD were sent to each referral hospital by speed post delivery in dry ice. From January 1988 to June 1998, 85 QA services were performed. Two hundred and seven (13.5%) abnormal QA results were found, which were attributed to clerk (11.6%), procedural (16.4%), and instrumental errors (47.3%). In aid to confirm G6PD deficiency, a method to detect the G6PD mutation by using the dried blood samples was developed. The frequencies of the mutant alleles in Taiwan were determined to be 46.8% (1376G > T), 16.2% (1388G > A), 7.9% (95A > G), 6.5% (493A > G), 5.6% (392G >T), 4.6% (1024C > T), 0.5% (487G > A) and 0.5% (519C > G), respectively.

译文

:6-磷酸葡萄糖脱氢酶(G6PD)缺乏症是台湾最常见的酶促疾病。台湾在1984年通过试点计划开始了通过荧光斑点试验对G6PD缺乏症进行大规模新生儿筛查。1987年7月1日开始在全国范围内进行筛查,并建立了包括18个转诊医院(包括离岛)的随访系统。组织进行验证性测试,医疗和遗传咨询。从1987年7月至1997年12月,由四个新生儿筛查中心筛查了从1,143个分娩单位收集在滤纸上的2,971,192足跟血样品。在台湾,已确认有46,570例病例,因为G6PD缺乏症估计约为2.1%(男性3.1%,女性0.9%)。 1997年,新生儿筛查的覆盖率为99%。为评估验证性测试的可靠性,开发了用于G6PD分析的外部质量保证(QA)程序。通过在干冰中快速分娩,定期将3或5种具有不同G6PD活性的冻干质量控制材料发送到每个转诊医院。从1988年1月到1998年6月,共进行了85次质量检查服务。发现了207个(13.5%)异常QA结果,这归因于业务员(11.6%),程序(16.4%)和工具错误(47.3%)。为了帮助确认G6PD缺乏症,开发了一种使用干血样品检测G6PD突变的方法。台湾的突变等位基因频率确定为46.8%(1376G> T),16.2%(1388G> A),7.9%(95A> G),6.5%(493A> G),5.6%(392G> T) ),4.6%(1024C> T),0.5%(487G> A)和0.5%(519C> G)。

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