Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Wang,Ding; Chen,Rui; Kong,Shu; Pan,Qian‑Ying; Zheng,Yu‑Hong; Qiu,Wen‑Jun; Fan,Yong; Sun,Xiao‑Fang

doi:10.3892/mmr.2017.6835

Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

Authors:
- Ding Wang
- Rui Chen
- Shu Kong
- Qian‑Ying Pan
- Yu‑Hong Zheng
- Wen‑Jun Qiu
- Yong Fan
- Xiao‑Fang Sun
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Affiliations: Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
Published online on: June 21, 2017 https://doi.org/10.3892/mmr.2017.6835
Pages: 2051-2054

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Abstract

Y-autosomal translocation has been previously reported in association with male infertility; however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization (FISH) were performed to analyze the translocation of chromosomes, and a single nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present study describes three new cases with a de novo balanced translocation t(Y;13), t(Y;9) and t(Y;6). To further explore the genotype‑phenotype correlation, G‑banding and FISH were performed and indicated the presence of a derivative chromosome. The SNP genotyping assay using a microarray revealed no abnormality, especially in the Y chromosome. Molecular deletion analysis demonstrated that no microdeletion was detected in the azoospermia factor region of the Y chromosome in the examined, infertile men. Based on these observations, the authors proposed the hypothesis that a position effect involving unknown spermatogenesis regulatory gene(s) serves a key role in male infertility.

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