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. Author manuscript; available in PMC: 2019 Jul 18.
Published in final edited form as: Genes Chromosomes Cancer. 2017 Mar 31;56(6):484–492. doi: 10.1002/gcc.22452

FIGURE 4.

FIGURE 4

Breakpoint mapping of a partial FH deletion in a HLRCC patient. (A) The GeneDx aCGH identified loss of a region upstream of the FH gene and provided inconclusive results for exon 1. A series of PCR primer pairs was designed within the FH gene and upstream (UpStr) of transcription start site, including the suggested deleted region. Real-Time PCR analysis of these loci demonstrated loss of exon 1 and three upstream probes. (B) Sequencing of the PCR fragment produced using the primers designed for the RT-PCR analysis demonstrated the exact breakpoint and the loss of 4088 bp including all of exon 1. The lost and retained exons within the FH gene are shown in red, and all positions and size calculations are based on the GRCh37/hg19 build. [Color figure can be viewed at wileyonlinelibrary.com]