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. 2024 Mar 5;17(1):67.
doi: 10.1186/s13104-024-06710-1.

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

Márcia Regina Gimenes Adriano  1 , Adriana Bortolai  2 , Fabricia Andreia Rosa Madia  3 , Gleyson Francisco da Silva Carvalho  3 , Amom Mendes Nascimento  3 , Evelin Aline Zanardo  3 , Beatriz Martins Wolff  3 , Jaques Waisberg  2 , Adriana Bos-Mikich  4 , Leslie Domenici Kulikowski  3 , Alexandre Torchio Dias  2   3   5   6
Affiliations

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

Márcia Regina Gimenes Adriano et al. BMC Res Notes. .

Abstract

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).

Keywords: Male infertility, Y chromosome, Cytogenetics, Karyotype, Multiplex polymerase chain reaction, Duplicate genes, Recurrent abortion.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Flowchart of the patients included in the study
Fig. 2
Fig. 2
MLPA abnormal results. (A) Genomic analysis of the pregestational infertile patient with CDY2B gene probes region duplication. Histogram of the results of each probe containing the CDY2B_1 and CDY2B_2 probes above the reference values. MLPA is a comparative test, and the analysis was normalized to the number of suitable copies (x2) considering that all probes presented as duplicates have more than two copies of the gene. (B) Genomic analysis of the gestational infertile patient with BPY2 probes region duplication. Histogram of the results of each probe containing probes BPY2_1, BPY2_2 and BPY_4 above the reference values. MLPA analysis was normalized to the number of suitable copies (x3) considering that all probes presented as duplicates have more than three copies – Coffalyser software
See this image and copyright information in PMC

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