通过 G6PD/6PGD 比率测定结合扩增难治性突变系统 PCR,减少杂合子女性 G6PD 缺乏症的漏诊。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2023-01-01 Epub Date: 2022-10-31 DOI:10.1159/000527806
Shiguo Chen, Jian Gao, Qunyan Wu, Xi Li, Sheng Lin, Jindi Su, Kaifeng Zheng, Zhaopeng Guo, Jilong Yao, Shan Duan
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引用次数: 0

摘要

目的:葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是一种导致酶活性受损的 X 连锁遗传疾病。在中国,G6PD/6PGD比值测定已被常规用于G6PD缺乏症的筛查,但在杂合子女性中存在明显的漏诊缺陷。本研究旨在探索提高其准确性的方法:这项回顾性研究共收集了 4,161 名中国育龄女性的样本。所有样本首先进行G6PD/6PGD比值测定,然后通过扩增难治性突变系统PCR(ARMS-PCR)筛查中国人群中的6个热点突变体(c.1376G>T、c.1388G>A、c.95A>G、c.1024C>T、c.392G>T和c.871G>A)。对于具有 G6PD/6PGD 比率的样本结果如下:深圳育龄女性的 G6PD 缺乏症患病率为 7.31%。在304名G6PD变异携带者中,6个热点变异所占比例为98.03%。以 ARMS-PCR/NGS 结果为参考,G6PD/6PGD 比值检测的漏诊率为 33.88%。使用 ARMS-PCR 对 G6PD/6PGD 比值介于 1.00 与 1.10 之间或 1.00 与 1.15 之间的样本进行复检,可将漏诊率从原来的 33.88% 分别降至 18.09% 或 12.05%:结论:ARMS-PCR是发现G6PD/6PGD比值检测漏诊的大多数携带者的适当辅助方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired enzyme activity. The G6PD/6PGD ratio assay was routinely used for G6PD deficiency screening in China, but there is an apparent defect of missed diagnosis in heterozygous females. The study aims to explore the means to improve its accuracy.

Methods: A total of 4,161 Chinese females of childbearing age were collected in this retrospective study. All samples were first subjected to G6PD/6PGD ratio assay and then screened by amplification refractory mutation system PCR (ARMS-PCR) for six hotspot mutants in Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). For the samples with G6PD/6PGD ratio<1.0 and no mutations were found by ARMS-PCR, next-generation sequencing (NGS) was performed. Sanger sequencing was finally used to verify all the variants.

Results: The prevalence of G6PD deficiency in Shenzhen females of childbearing age was 7.31%. The proportion of the six hotspot mutations accounted for 98.03% of all 304 G6PD variants carriers. Taking the ARMS-PCR/NGS results as a reference, the missed diagnosis rate of the G6PD/6PGD ratio assay was 33.88%. Using ARMS-PCR to retest the samples with a G6PD/6PGD ratio between 1.00 and ∼1.10 or 1.00 and ∼1.15 could reduce the missed diagnosis rate from the original 33.88% to 18.09% or 12.05% separately.

Conclusion: ARMS-PCR is an appropriate supplementary method for discovering most carriers missed by the G6PD/6PGD ratio assay.

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来源期刊
Human Heredity
Human Heredity 生物-遗传学
CiteScore
2.50
自引率
0.00%
发文量
12
审稿时长
>12 weeks
期刊介绍: Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.
期刊最新文献
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