杜氏肌营养不良症新生儿筛查：在美国和丹麦人群中对一种新型干血斑新生儿肌酸激酶-MM试剂盒的评估。

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP Neonatal Creatine Kinase-MM Kit in a US and Danish Population.

作者信息

Timonen Anne, Lloyd-Puryear Michele, Hougaard David M, Meriö Liisa, Mäkinen Pauliina, Laitala Ville, Pölönen Tuukka, Skogstrand Kristin, Kennedy Annie, Airenne Sari, Polari Hanna, Korpimäki Teemu

机构信息

PerkinElmer, Wallac Oy, Mustionkatu 6, 20750 Turku, Finland.

American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA.

出版信息

Int J Neonatal Screen. 2019 Aug 27;5(3):27. doi: 10.3390/ijns5030027. eCollection 2019 Sep.

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform-the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening.

杜氏肌营养不良症（DMD/杜氏）是一种进行性X连锁疾病，是小儿期最常见的肌营养不良症形式，约每5000例活产男婴中就有1例受影响。对肌营养不良蛋白基因的突变进行DNA检测可确诊该疾病。本研究涉及使用肌肉型（MM）肌酸激酶（CK）同工酶免疫测定法——GSP新生儿CK-MM试剂盒对新生儿进行DMD筛查评估。将其与通过荧光测量法测定的CK活性进行比较。此外，该研究还评估了胎龄、采样时婴儿的年龄以及CK-MM随时间的稳定性。该检测方法在正常、未受影响和杜氏肌营养不良症患者群体之间有良好的区分能力，适用于杜氏肌营养不良症新生儿筛查。