Xenbase Image ID: 172172

Fig. 2. Rare genic deletions and duplications in Htx patients. Results of Illumina genotyping and qPCR are shown for four CNVs at three loci that contain genes implicated in Htx. In all panels, genes in the indicated chromosome segment are shown and genes implicated in Htx are denoted by arrows. Data from subjects with deletion or duplications are shown in red or blue, respectively, and the remaining Htx subjects are depicted in gray. (Upper) Probe intensities in consecutive 10-SNP windows normalized to a mean of 0 and SD of 1 from values in the remaining Htx subjects. P values supporting CNVs are shown in Table S1. Ratios of results of qPCR in index cases compared with controls are shown as red diamonds. (Lower) B-allele fraction (BAF) of SNPs across the interval. Arrows indicate locations of implicated LR genes. (A) Independent deletion and duplication affecting TGFBR2 in subjects 28 and 139, respectively. (B) Deletion of first three exons of GALNT11 in subject 257. (C) Duplication of ROCK2 in subject 152. Image published in: Fakhro KA et al. (2011) Copyright © 2011. Image reproduced with permission of the publisher and the copyright holder. This is an Open Access article distributed under the terms of the Creative Commons Attribution License. Larger Image Printer Friendly View

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