Skip to main content
Figure 4 | BMC Medical Genetics

Figure 4

From: Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Figure 4

Molecular analysis of HOXD13. A, B: DNA electropherograms of the GCN-region of HOXD13 exon 1, depicting two normal repeat variants. C, SPD1 associated duplication of 21 bp in homozygous affected subject (IX-20) in the Pakistani kindred, results in an addition of seven alanine residues. D, Indian pedigree with SPD1; the part of the pedigree analyzed is highlighted in red. E, Normal repeat polymorphisms and the expansion mutation are evident by allele separation of the exon 1 PCR product flanking the GCN region.

Back to article page