Abstract:
:Analysis of the exon-intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we have succeeded in defining the size of the gene and its organization. Our results, compared with data on the distribution of deletion breakpoints by intron, elucidate the topography of the intragenic deletion-prone regions. Within the central high-frequency deletion region, the small, 6.6-kb, intron 49 shows a much higher density of deletion breakpoints than intron 44, which was previously believed to coincide with the most mutable zone of the gene. On the other hand, in the proximal part of the gene, deletion breakpoints do not preferentially occur in a few introns, but are spread over a large DNA segment containing introns 2 to 42.
journal_name
Genomicsjournal_title
Genomicsauthors
Nobile C,Marchi J,Nigro V,Roberts RG,Danieli GAdoi
10.1006/geno.1997.4911subject
Has Abstractpub_date
1997-10-15 00:00:00pages
421-4issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(97)94911-9journal_volume
45pub_type
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