Figure 2

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-g002

Figure 2:

DP/LC chromatograms for three different duplexes used in SHOX analysis. x-axis: retention time in min; y-axis: fluorescence intensity. Example of results obtained for quantification of copy number of SHOX exons 1, 3 and 7 in patients PRAM-16 and PRAM-42. In these experiments, a pool of 5 independent genomic DNAs was used as standard and the hydroxymethylbilane synthase (HMBS) gene, located at 11q23.2-qter, was used as an internal control. Profiles are superimposed and then normalized using the control amplicon for HMBS. Black arrows show the triple dosage of SHOX exons 1, 3 and 7 in patient PRAM-42. Primers sequences and location are summarized in Table 2.

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

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