Open AccessEfficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients
Author(s) -
C. S. Franchim,
José Maria Soares-Júnior,
P. Serafini,
Pedro Augusto Araújo Monteleone,
M. S. Coccuzza,
Évelin Aline Zanardo,
Marília M. Montenegro,
Alexandre Torchio Dias,
Leslie Domenici Kulikowski,
Edmund C. Baracat
Publication year - 2020
Publication title -
journal of assisted reproduction and genetics
Language(s) - English
Resource type - Journals
eISSN - 1573-7330
pISSN - 1058-0468
DOI - 10.1007/s10815-020-01777-8
Subject(s) - multiplex ligation dependent probe amplification , genetics , biology , gene duplication , multiplex , multiplex polymerase chain reaction , copy number variation , polymerase chain reaction , chromosome , gene , genome , exon
Worldwide publications follow the gold standard method-the polymerase chain reaction (PCR)-for detecting Y-chromosome microdeletions; however, markers are frequently variable between the studies. Can we detect the deletions by another molecular method with more genomic coverage? The Y chromosome harbors several different genes responsible for testicular development and spermatogenesis, and its repetitive conformation predisposes it to complex rearrangements that have clinical impact. Our aim was to evaluate a molecular diagnostic method, the Multiplex Ligand Probe-dependent Amplification (MLPA), which is also a valuable ancillary method for the identification of deletions, duplications, and rearrangements in a single and faster reaction, leading to a better comprehension of patients' phenotypes, and should be considered a useful tool for detection of Y chromosome deletions.