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

被引：30

作者：

Timonen, Anne ^{[1
]}

Lloyd-Puryear, Michele ^{[2
]}

Hougaard, David M. ^{[3
]}

Merio, Liisa ^{[1
]}

Makinen, Pauliina ^{[1
]}

Laitala, Ville ^{[1
]}

Polonen, Tuukka ^{[1
]}

Skogstrand, Kristin ^{[3
]}

Kennedy, Annie ^{[4
]}

Airenne, Sari ^{[1
]}

Polari, Hanna ^{[1
]}

Korpimaki, Teemu ^{[1
]}

机构：

[1] Wallac Oy, PerkinElmer, Mustionkatu 6, Turku 20750, Finland

[2] Amer Coll Med Genet & Genom, Bethesda, MD 20814 USA

[3] Statens Serum Inst, Danish Ctr Neonatal Screening, DK-2300 Copenhagen, Denmark

[4] Parent Project Muscular Dystrophy, Hackensack, NJ 07601 USA

来源：

INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2019年 / 5卷 / 03期

关键词：

Duchenne muscular dystrophy; creatine kinase; newborn screening; DIAGNOSIS; SERUM; PHOSPHOKINASE;

D O I：

10.3390/ijns5030027

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

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