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Genomic Reference Sequence of the dystrophin (DMD) gene

(last modified March 6, 2010)

Introduction

The DMD gene genomic reference sequence we currently use has been generated in collaboration with NCBI's RefSeqGene project, record NG_012232.1. This record is also used as the basis for the description of sequence variants in the DMD gene (see the DMD gene variant databases).

The reference sequence we have used in the past was constructed as described below (Table "Genomic Reference Sequence of the dystrophin (DMD) gene"). The sequence was based on the individual sequences released from the Human Genome Project (HGP), mainly completely sequenced PAC and BAC clones.

On specific issues, more detailed data can be found at;

• Sequences / markers in and around the dystrophin gene
          (with links to all individual reference exon and intron sequences)
• VNTR's in and around the DMD-gene  (incl. CA-repeats)
• Dystrophin (DMD) gene exon and intron sizes
• DMD gene sequence variations (mutations)
  • point mutations
  • deletions / duplications
• Primer sequences for PCR    (incl. exons and markers [incl. RFLP])
• GenBank submissions from the Leiden Muscular Dystrophy pages

Legend:
Region DMD gene: DMD gene region covered by the respective sequence file. GenBank file: accession number of the sequence in GenBank. Lentgh (in bp): length of sequence in the GenBank file as used for the DMD genomic Reference Sequence. Clone: clone-ID. Remark: details on the clone. 

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