Denaturing high-performance liquid chromatography coupled with multiplex PCR for rapid detection of large duplications or deletions in patients with Duchenne muscular dystrophy and spinal muscular atrophy.
- Author:
Hai-qiang ZOU
1
;
Bao-jian ZHAO
;
Jin YAN
;
Wei HAN
;
Mei-hua XIONG
;
Kai-run PENG
Author Information
- Publication Type:Journal Article
- MeSH: Chromatography, High Pressure Liquid; Dystrophin; genetics; Gene Deletion; Gene Duplication; Humans; Multiplex Polymerase Chain Reaction; Muscular Atrophy, Spinal; diagnosis; genetics; Muscular Dystrophy, Duchenne; diagnosis; genetics; Survival of Motor Neuron 1 Protein; genetics
- From: Chinese Journal of Medical Genetics 2012;29(6):686-689
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of multiplex PCR-denaturing high-performance liquid chromatography (PCR-DHPLC) method for screening large duplications or deletions in patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA).
METHODSDNA was extracted from peripheral venous blood samples from 35 DMD and 6 SMA patients. Large duplications or deletions were screened with multiplex PCR coupled with DHPLC method. The results were validated with testing of positive and negative controls.
RESULTSKnown duplications or deletions in all controls were reliably detected with multiple PCR coupled with DHPLC. Large duplications or deletions were found in 71.4% of 35 DMD patients, which included 5 large duplications and 20 large deletions. For SMA patients, deletions of SMN1 exon 7 were detected in 16 samples.
CONCLUSIONMultiplex PCR coupled with DHPLC method is an effective and reliable method for detecting large genomic duplications or deletions in patients with DMD or SMA.
