CK assay with gene testing for screening of Duchenne muscular dystrophy in the newborn infants
10.3760/cma.j.issn.1009-9158.2015.01.009
- VernacularTitle:肌酸磷酸激酶检测联合分子诊断技术筛查新生儿杜氏肌营养不良症
- Author:
Xiaoer YANG
;
Jing YU
;
Heyu HU
;
Li ZHANG
;
Li SUN
;
Bo GONG
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy,duchenne;
Neonatal screening;
Creatine kinase;
Molecular diagnostic techniques;
Sequence analysis,DNA
- From:
Chinese Journal of Laboratory Medicine
2015;38(1):32-34
- CountryChina
- Language:Chinese
-
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
