CK assay with gene testing for screening of Duchenne muscular dystrophy in the newborn infants / 中华检验医学杂志

ABSTRACT

Objective To establish a system using CK activity assessing with follow-up Duchenne muscular dystrophy (DMD) gene testing to newborn screening for DMD.This study provided a pathway to improve the health outcome for individuals with DMD.Methods Tests for CK were performed with Beckman original reagent on a Beckman Coulter AU 5800.Preliminary studies established a population-based range of CK in newborns using 5 892 deidentified anonymous blood samples,which were collected from Shanghai Changning Maternity and Infant Health Hospital between November 2013 and July 2014.Mutation analysis used multiplex PCR-denature high-performance liquid chromatography (PCR-DHPLC) method for screening large duplications and deletions and Sanger DNA sequencing for screening point DMD gene mutation.Results DMD gene mutations (point mutation,exon60,c.9072G ＞ A) were found in 1 of 5 892 newborn subjects,which had CK level ＞ 2 000 U/L large duplications and deletions in DMD gene were not found.Conclusions A system of analysis for newborn screening for DMD has been established.This path for newborn screening fits our health care system and minimizes the false-positive results for predicting DMD gene mutations by use of CK levels in blood