Figure 3From: Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD Mutation analysis of the SGCG gene in patient 2. Capillary electrophoretic patterns of the PCR products are shown in the upper portion of the figure. Five genomic regions were co-amplified in one PCR reaction, with the products separated using capillary electrophoresis. The position of each of the amplified products of exons 5, 6, 7, and 8 of the SGCG gene and exon 2 of the α-dystroglycan gene (DG) are marked. In patient 2, the peak area of exon 6 is nearly half that of the control, indicating a heterozygous deletion of exon 6. IS refers to a 1,500-bp marker. The amplified fragments that encompassed exons 5 to 8 of the SGCG mRNA are shown in the lower part of the figure (c; control, p; patient). Two different product sizes were obtained from the patient. Sequencing of the products disclosed that one exhibited a complete absence of exon 6, while the other included a nucleotide insertion in exon 7 (c.602_603insT). Thus, in this patient there was both a heterozygous nucleotide insertion in exon 7 and a heterozygous deletion of exon 6 of the SGCG gene.Back to article page