Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1–2/100,000, while the incidence is 1/6000–1/10,000 among live births. Due to the high carrier frequency (1/40–1/60) of SMA-associated alleles, screening can prevent new cases. The aim of the current study was to present the development of a new, quantitative, real-time, polymerase chain reaction (PCR)-based screening test that uses an intelligent ratio (IR) for analyses, as well as a comparison of the results with the gold standard.

中文翻译：

---

智能比率：脊髓性肌萎缩症携带者和新生儿筛查的新方法。

目的：脊髓性肌萎缩症（SMA）是一种遗传性常染色体隐性遗传性神经肌肉疾病，可导致高发病率和高死亡率。在活产婴儿中，患病率为1-2–100,000，而发病率为1 / 6000–1 / 10,000。由于SMA相关等位基因的高载频（1 / 40–1 / 60），筛选可以预防新病例。当前研究的目的是介绍一种新的，基于定量，实时，聚合酶链反应（PCR）的筛选测试的开发，该测试使用智能比率（IR）进行分析，并对结果进行比较与黄金标准。