Drousiotou A, Ioannou P, Georgiou T, Mavrikiou E, Christopoulos G, Kyriakides T, Voyasianos M, Argyriou A, Middleton L
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Genet Test. 1998;2(1):55-60. doi: 10.1089/gte.1998.2.55.
The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique in a pilot national program. The study was performed on the island of Cyprus, which provides ideal conditions for maximizing the prevention rate due to the small size of the country, the well-defined population, and the high degree of awareness of the public concerning genetic diseases. Guthrie spots were obtained through the national screening center for phenylketonuria and congenital hypothyroidism. The bioluminescence method for measuring creatine kinase (CK) in dried blood spots was adapted for use in a semiquantitative way. During the first 6 years of the program (1992-1997), we screened 30,014 samples and found 43 with initially high CK values. We were able to obtain repeat specimens in 35 cases. Of the repeat samples, 30 were found to have normal activity, giving a false-positive rate of 0.10%. Five boys had persistent CK elevations and were confirmed to be DMD or Becker (BMD) cases by DNA analysis and/or dystrophin analysis. The semiquantitative application of the bioluminescence assay of CK that we have introduced has proved to be a fast and reliable method for screening large numbers of samples for DMD. It has a low rate of false positives, which compares favorably with that of other DMD screening programs. Although it is early to evaluate its impact fully, the program seems to be bringing about the anticipated benefits to affected families.
本研究的目的是评估生物发光试验用于筛查新生儿杜氏肌营养不良症（DMD）的一种新型半定量应用，并在一项全国性试点项目中运用该技术。该研究在塞浦路斯岛开展，该国面积小、人口界定清晰、公众对遗传病的认知度高，为将预防率最大化提供了理想条件。通过全国苯丙酮尿症和先天性甲状腺功能减退症筛查中心获取滤纸血斑。将用于测量干血斑中肌酸激酶（CK）的生物发光方法进行改进以用于半定量检测。在该项目的头6年（1992 - 1997年），我们筛查了30,014份样本，发现43份样本最初的CK值较高。我们能够获取35例样本的重复样本。在重复样本中，30例的活性正常，假阳性率为0.10%。5名男孩的CK持续升高，经DNA分析和/或抗肌萎缩蛋白分析确诊为DMD或贝克肌营养不良症（BMD）病例。我们引入的CK生物发光测定法的半定量应用已证明是一种快速且可靠的方法，可用于筛查大量DMD样本。其假阳性率较低，与其他DMD筛查项目相比具有优势。尽管全面评估其影响尚早，但该项目似乎正在给受影响家庭带来预期的益处。
