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A novel insertional mutation of a single base in exon 12 of the dystrophin gene
Author(s) -
Lasa Adriana,
Gallano Pia,
Colomer Jaume,
Baiget Montserrat
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04071.x
Subject(s) - exon , genetics , point mutation , dystrophin , mutation , stop codon , gene , biology , microbiology and biotechnology
A new point mutation in exon 12 of the dystrophin gene was identified in a DMD patient using multiple SSCP analysis, which allows the simultaneous study of several exons. The mutation is an A insertion at position 1580 of the cDNA sequence, leading to a stop codon in the translational reading frame. This mutation was not observed in a sample of 70 DMD patients.