Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases : experience of 14 years in a public genetic service

• Autor(a) principal: Adriano, Márcia Regina Gimenes
• Data de Publicação: 2024
• Outros Autores: Bortolai, Adriana, Madia, Fabricia Andreia Rosa, Carvalho, Gleyson Francisco da Silva, Nascimento, Amom Mendes, Zanardo, Evelin Aline, Wolff, Beatriz Martins, Waisber, Jaques, Mikich, Adriana Bos, Kulikowski, Leslie Domenici, Dias, Alexandre Torchio
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/279977
• topic: Infertilidade masculina; Citogenética; Reação em cadeia da polimerase multiplex; Aborto habitual; Cromossomo Y; Cariótipo; Male infertility; Y chromosome; Cytogenetics; Karyotype; Multiplex polymerase chain reaction; Duplicate genes; Recurrent abortion

Objectives: Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed to conduct a cytogenetic investigation of numerical and structural rearrangements and a genomic study of Y chromosome microdeletions/microduplications in infertile men derived from a single centre with over 14 years of experience. Results: We evaluated 151 infertile men in a transversal study using peripheral blood karyotypes and 15 patients with normal karyotypes through genomic investigation by multiplex ligation-dependent probe amplification (MLPA) or polymerase chain reaction of sequence-tagged sites (PCR-STS) techniques. Out of the 151 patients evaluated by karyotype, 13 presented chromosomal abnormalities: two had numerical alterations, and 11 had structural chromosomal rearrangements. PCR-STS detected a BPY2 gene region and RBMY2DP pseudogene region microdeletion in one patient. MLPA analysis allowed the identification of one patient with CDY2B_1 and CDY2B_2 probe duplications (CDY2B and NLGN4Y genes) and one patient with BPY2_1, BPY2_2, and BPY2_4 probe duplications (PRY and RBMY1J genes).