Figure 1

Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism

Daniel Guerrier* and Karine Morcel

Published: 24 March, 2021 | Volume 4 - Issue 1 | Pages: 001-008

jgmgt-aid1006-g001

Figure 1:

SHOX gene dosage in four independent MRKH patients (PRAM-16, -19, -42 and -51) assessed by the MLPA kit PO18-F1 SHOX . In the diagrams, MLPA probes are represented along the x-axis (size of PCR products) and the fluorescent intensity ratio is represented on the y-axis. Each probe is represented by a square (green for SHOX gene and surrounding regions, blue for internal controls, grey for the Y chromosome). The correspondence between the probes size and their respective location is shown on S1. The upper and lower arbitrary borders are shown respectively as a green upper and lower line. Probe ratios crossing the upper or the lower border are respectively indicative for a duplication or a deletion. Thus, a ratio of 1.5 (3:2) indicates the presence of an additional copy (heterozygous duplication) of a DNA stretch of a gene present in two copies in the genome, while a ratio of 0.5 (1:2) would indicate a heterozygous deletion. The detailed analysis of MLPA experiments is also included in S1. (A) Results of patient PRAM-16 showing no copy number variations. (B) Results of patient PRAM-19 showing a heterozygous duplication of 1 probed region (SHOX exon 5). (C) Results of patient PRAM-42 showing the duplication of 9 contiguous probed regions (4.7 kb upstream of the SHOX gene up to end of intron 6, 1.4 kb upstream of exon 7) and (D) Results of patient PRAM-51 showing the duplication of 3 contiguous probed regions (SHOX exons 1, 2 and 3).

Read Full Article HTML DOI: 10.29328/journal.jgmgt.1001006 Cite this Article Read Full Article PDF

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