Skip to main content
Figure 2 | BMC Medical Genetics

Figure 2

From: Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Figure 2

COL6A2 genomic and transcript analysis in BM Patient 1 and his father. A) Sequence chromatograms of BM Patient 1 showing the maternal deletion within exon 28 (GACGTG) (left) and two polymorphisms (c.2094 G>A - A698A; C.2097 C>T - G699G) within exon 26 (black vertical arrows) (right) occurring heterozygously at the DNA level (upper panel) and pseudo-homozygously at the RNA level (lower panel). B) Sequence chromatograms in the BM Patient 1 father showing that the exon 26 polymorphisms (c.2094 G>A - A698A; C.2097 C>T - G699G) occur heterozygously at the DNA level (upper panel). At the RNA level (lower panel) the nucleotide variants that are undetectable in the BM Patient 1 (c.2094 G and c.2097 C), are only barely visible in the father.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us