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Figure 2 | BMC Medical Genetics

Figure 2

From: Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

Figure 2

PCR-based breakpoint identification. (A) Long-range PCR products of ~ 16 kb covering the breakpoint region of the derivative chromosome 12. M: DNA size marker; 1. II-1, 2. II-3, 3: I-2, 4: I-1, 5: water blank, 6: positive control for long-range PCR using genomic DNA as a template, 7. positive control for long-range PCR using phage lambda as a template. (B) The breakpoint region of derivative chromosome 12 was further narrowed down to a PCR product of ~ 2 kb. M: DNA size marker; 1. II-1, 2. II-3, 3: I-2, 4: I-1, 5: positive control for long-range PCR using genomic DNA as a template (C). To sequence the breakpoint region, a PCR product of 600 bp covering the breakpoint region of derivative chromosome 12 was generated and subjected to autosequencing. M: DNA size marker; 1. II-1, 2. II-3, 3: I-2, 4: I-1, 5: water blank. (D) PCR products of ~ 1 kb covering the breakpoint region of derivative chromosome 1 were obtained and subjected to autosequencing. M: DNA size marker; 1. II-1, 2. II-3, 3: I-2, 4: I-1, 5: water blank.

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BMC Medical Genetics

ISSN: 1471-2350

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