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Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 430-434, 2021.
Article in Chinese | WPRIM | ID: wpr-879596
ABSTRACT
OBJECTIVE@#To establish a newborn screening system for Duchenne muscular dystrophy (DMD) through assessment of MM isoenzyme of creatine kinase (CK-MM) activity.@*METHODS@#The CK-MM level was detected using dry blood spot filter paper from 10 252 male newborns. The results were grouped based on their gestational age, sampling time and intervals between the experiments. The threshold value for CK-MM necessitating genetic testing was determined. Next-generation sequencing (NGS) was carried out for those with a CK-MM value over the threshold, and the result was verified by multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Based on the result of non-parametric rank sum test, the median CK-MM concentration has increased with the gestational age, and was inversely correlated with the age of the newborns among unaffected specimens. CK-MM on dry blood spot filter paper can be stable for 14 days at 2-8℃. Statistical analysis of CK-MM value of the 10 252 neonates suggested that the threshold may be set as 700 ng/mL. Exonic deletions were found in 2 confirmed cases, whose CK-MM level was greater than 2000 ng/mL.@*CONCLUSION@#Detection of CK-MM in dry blood spot filter paper has provided an effective method for newborn screening of DMD. This simple and inexpensive method can be used for large-scale screening, which is of great value to the early intervention and treatment of the disease.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Exons / Dystrophin / Neonatal Screening / Muscular Dystrophy, Duchenne / Multiplex Polymerase Chain Reaction Type of study: Diagnostic study / Screening study Limits: Humans / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Exons / Dystrophin / Neonatal Screening / Muscular Dystrophy, Duchenne / Multiplex Polymerase Chain Reaction Type of study: Diagnostic study / Screening study Limits: Humans / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article