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. 2015 May 4;7(1):42. doi: 10.1186/s13073-015-0148-0

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© Lin et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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The ~11 kb deletion silences one APC allele in the blood of affected individuals. Germline heterozygous SNPs were evaluated in the RNA isolated from peripheral blood, with sample traces shown here. dbSNP rs465899 was found to be heterozygous in the proband 0124 (III-5) gDNA but not in the cDNA, whereas this SNP was heterozygous in both gDNA and cDNA in the unaffected subject 0124 (III-4). A loss of cDNA heterozygosity was also observed in proband 0130 (IV-1) with SNP rs459552, and in proband 0163 (III-2) with SNP rs465899.