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Fig. 5 | BMC Genomics

Fig. 5

From: Structural variation of the malaria-associated human glycophorin A-B-E region

Fig. 5

Examples of refining breakpoints of a deletion (DEL6) and a duplication (DUP14). a Sequence read depth analysis, indicating position of PCR primers (not to scale). b Variant model, showing position of primers on reference and variant. c Agarose electrophoresis of long PCR products using variant-specific primers indicated in b). “-” indicates a negative control with no genomic DNA and the marker, indicated by “m”, is Bioline Hyperladder 1 kb+. The triangles indicate increasing PCR annealing temperature from 58 °C to 67 °C. d Multiple sequence alignment of the variant-specific PCR product, with homologous sequence on the GYPA repeat and the GYPE repeat. GYPE-specific variants are in green, GYPA-repeat-specific variants are in purple. e A model of the generation of the variants by NAHR

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