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Clinica Chimica Acta：在新生儿筛查项目中提高对葡萄糖-6-磷酸脱氢酶缺乏风险携带者的检测

2019-09-22 gladiator MedSci原创

新生儿筛查风险携带者检测
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葡萄糖<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size:14.0pt;font-葡萄糖-6-磷酸脱氢酶缺乏症患者暴露于高水平的氧化应激下，可发展为急性溶血性贫血、慢性溶血性贫血和新生儿高胆红素血症。在一定条件下，严重溶血不仅可能发生在患者身上，也可能发生在女性携带者身上。然而，在现有的新生儿筛查计划中，大约有80%-85%的

葡萄糖-6-磷酸脱氢酶缺乏症患者暴露于高水平的氧化应激下，可发展为急性溶血性贫血、慢性溶血性贫血和新生儿高胆红素血症。在一定条件下，严重溶血不仅可能发生在患者身上，也可能发生在女性携带者身上。然而，在现有的新生儿筛查计划中，大约有80%-85%的女性携带者没有被检测到，因为她们的酶活性水平非常差异很大。我们开发了一种成本和时间效率较高的利用干血斑的多重快速检测方法。

通过检测台湾和东南亚地区的21种常见突变，本实验可以确定台湾新生儿群体中98.2%的突变等位基因。用Sanger测序法检测了9个未确定的突变体等位基因，其中5个为未见报道的突变体，即c.187G > A (Pingtung), c.585G > C (Tainan), c.586A > T (Changhua), c.743G > A (Chiayi), and c.1330G > A (Tainan-2)。此外，轻度突变的13％男性婴儿在6.0 U / GHB设定截止值时，却因其酶水平在6.1-7.0 U / GHB在新生儿筛查计划时被漏诊。因此，我们建议增加截断值，并应用多重快速法作为新生儿二次筛查。

研究表明，我们的方法可以显著提高男性患者和女性携带者的检出率，且成本合理，临床转诊次数合理。

原始出处：

Yen-Hui Chiu，Hsiao-Jan Chen，Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program

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    2019-12-06 ms9203727104890838

    #筛查项目#

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    2020-06-25 windight

    #CTA#

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    2020-07-07 ying_wu

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    2020-05-06 qblt

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