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. 2022 Oct;8(6):a006213. doi: 10.1101/mcs.a006213

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© 2022 Elgaz et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

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Figure 4. — Results of (A,B) semiquantitative multiplex ligation-dependent probe amplification (MLPA)- and (C) next-generation sequencing (NGS)-based analyses of the patient for copy-number variations (CNVs) in the FBN1 gene. Bars in the upper and lower histograms represent MLPA probes (A,B) and exons covered by NGS data (C), respectively. Upper histogram: blue bars, mean relative peak area (RPA; A,B) and mean relative product coverage (RPC; C) of the reference DNAs with standard deviations; green bars, RPA (A,B) and RPC (C) of patient DNA. Numbers below the bars in A and B: amplicon length (bp) of each MLPA probe. Lower histogram with the bar for each probe/exon indicating the ratio RPA (A,B) and ratio RPC (C), respectively (RPA/RPC of the patient divided by the RPA/RPC of the reference DNAs). Light blue bars: ratio RPAs (A,B) and RPCs (C) ranging within the limits from 75% to 125% (red lines). Dark blue bars: ratio RPAs (A,B) and RPCs (C) below the limit of 75% indicating a deletion; deletions were detected for FBN1 exons 42–45 by MLPA analysis (SALSA MLPA Kits P065-C1 in A and P066-C1 in B, respectively) and for exons 42–46 with an additional questionable deletion of exon 41 by NGS analysis (C).