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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Fig. 2

Breakpoint detection and rearrangement mechanism of the large deletion of F13A1 in proband 2. a Breakpoint detection of the large deletion of F13A1 by quantitative primer walking combined with LR-PCR strategies; b Identification of the breakpoints by sequencing of the LR-PCR product; c The complex rearrangement mediated by two FosTes/MMBIR events with two micro-homologies of TCT and C, respectively. Ten fragments used in primer walking detection were indicated by black blocks, and deletion by two dotted line rectangular frames; LF and LR were the forward and reverse primers for the LR-PCR amplification. The two micro-homologies of TCT and C were indicated by two rectangular frames, respectively. SINE/MIRc, LINE/L1M4 and LINE/L1HS were indicated by black bars

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172