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Deletion mutations in DMD/BMD identified in India

(last modified September 30, 2006)

Total

Extent of deletions

Legend
DMD gene deletion data determined on DMD/BMD patients from India. All mutations have been included in the DMD/BMD deletion/duplication database.

• data for North India are from Singh et al. (1997); in 121 unrelated DMD/BMD patients 89 deletions were found. Deletions were first detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and subsequently using Southern blot analysis with cDNA-probes 2b-3, 4-5a and 8.
• data for all parts of India are from Banerjee & Verma (1997); in 160 unrelated DMD/BMD patients 103 deletions were found. Deletions were first detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and subsequently using a specific PCR for exons 20, 21, 22, 34, 42, 46, 49, 53 and 55.
• data for New Dehli (Department of Neurology, G. B. Pant Hospital) are from Mital et al. (1998), Kumari et al. (2000) and Kumari et al. (2003); in 51 unrelated B/DMD families (51 index cases, 18 sibs) 37 deletions were found. Deletions were first detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets + 9 others (not specified) and Southern blotting.
• data from Kolkata from Basak et al. (2006); in 70 BMD/DMD patients tested, 46 had a deletion. Deletions were first detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and subsequently using exon-specific PCR.

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