Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
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Year : 2013  |  Volume : 137  |  Issue : 6  |  Page : 1102-1110

Carrier detection in Duchenne muscular dystrophy using molecular methods

1 Sundaram Medical Foundation, Chennai, India
2 Molecular Diagnostics, Counseling, Care & Research Centre, Avinashilingam Deemed University for Women, Coimbatore, India
3 Institute of Child Health & Hospital for Children, Chennai, India

Correspondence Address:
B R Lakshmi
Molecular Diagnostics, Counseling, Care & Research Centre (MDCRC), Avinashilingam Deemed University for Women, Mettupalayam Road, Coimbatore 641 043
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Source of Support: None, Conflict of Interest: None

PMID: 23852291

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Background & objectives: Duchenne and Becker muscular dystrophies are X-linked allelic disorders which are caused by mutations in the DMD gene. Carrier analysis in DMD is complicated due to the heterozygous nature of the X chromosome. Several techniques have been tried for carrier analysis in families where the mutation is identified including quantitative multiplex PCR (qmPCR), Southern blot, and now multiplex ligation-dependent probe amplification (MLPA). Linkage analysis is used in cases without identifiable mutations. The present study was undertaken to determine the status of probable carriers in families where the DMD deletion/duplication has been identified for the affected index cases. Methods: Carrier status was present in 150 probable carriers from 110 apparently unrelated families where the patients' mutations were known. Of these 110 families, 100 were deletions, 9 duplications and 1 point mutation. Multiplex ligation-dependent probe amplification (MLPA) was used to assess the copy number changes and direct sequencing was used for the case with the point mutation. Results: Of the 150 cases, 49 were found to be carriers. Among the sporadic cases, it was observed that the rate of de novo mutations was very high (71%) as compared to the hereditary cases (29%), which was higher than the calculated rate (30%). It was observed that this difference was more apparent in deletion mutations than in duplications. Interpretation & conclusions: Identifying the DMD carrier rates in the families with unidentified deletions and duplications and where the causative mutation could be small insertions/deletions or point mutations could throw more light into this observation. MLPA was found to be useful in detecting copy number changes in DMD carriers and this could be the method of choice for DMD carrier analysis, when the mutation is detected in the affected child.

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