Festschrift: Professor Jenkins

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

Robyn Kerr, Carol Robinson, Fahmida B Essop, Amanda Krause

Abstract


Background. Genetic testing for Duchenne/Becker muscular dystrophy (DMD/BMD) mutations initially involved multiplex polymerase chain reaction (mPCR), which targeted two mutation hotspots in the gene and detected deletions in affected males. A newer technology, multiplex ligation-dependent probe amplification (MLPA), was introduced for diagnostic testing in 2007.

Objectives. To evaluate MLPA relative to mPCR as a technique for DMD/BMD diagnostic testing and to establish whether the mutation profile in affected individuals differs between different South African ethnic groups.

Methods. From January 2000 - May 2007, genetic diagnostic testing for DMD/BMD was undertaken in 128 male patients using mPCR. From May 2007 onwards, MLPA replaced this technique and 261 males were investigated. MLPA is a kit-based technology available from MRC-Holland.

Results. Of the 128 and 261 probands tested using mPCR and MLPA, respectively, 31% and 34% were found to carry a deletion mutation. Further, MLPA could detect duplication mutations (11.5%), complex rearrangements (1.5%) and small mutations (1.5%). In black patients, deletion mutations were found to cluster in the 3’ region of the gene. No population-specific pathogenic mutations were found.

Conclusions. The mutation detection rate for mPCR and MLPA is similar for deletion mutations, but MLPA proved to be a better diagnostic approach as it could detect other types of mutations as well, including duplications, complex rearrangements and small mutations. MLPA could also diagnose mutation status in at-risk female relatives, which is not possible with mPCR. 


Authors' affiliations

Robyn Kerr, Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

Carol Robinson, Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa

Fahmida B Essop, Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa

Amanda Krause, Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa

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Keywords

Duchenne/Becker muscular dystrophy; diagnostic testing; MLPA; festschrift; Trefor Jenkins; human genetics

Cite this article

South African Medical Journal 2013;103(12):999-1004. DOI:10.7196/SAMJ.7274

Article History

Date submitted: 2013-07-16
Date published: 2013-10-10

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