Wang Ding, Chen Rui, Kong Shu, Pan Qian-Ying, Zheng Yu-Hong, Qiu Wen-Jun, Fan Yong, Sun Xiao-Fang
Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China.
Mol Med Rep. 2017 Aug;16(2):2051-2054. doi: 10.3892/mmr.2017.6835. Epub 2017 Jun 21.
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.
Y-常染色体易位先前已有与男性不育相关的报道；然而，Y-常染色体易位与非梗阻性无精子症或严重少精子症的机制仍不清楚。进行了G显带和荧光原位杂交（FISH）以分析染色体易位，并使用单核苷酸多态性（SNP）基因分型测定法检测突变。本研究描述了3例新发的平衡易位t(Y;13)、t(Y;9)和t(Y;6)的病例。为了进一步探索基因型与表型的相关性，进行了G显带和FISH检测，结果显示存在一条衍生染色体。使用微阵列的SNP基因分型测定未发现异常，尤其是在Y染色体上。分子缺失分析表明，在所检测的不育男性中，Y染色体的无精子症因子区域未检测到微缺失。基于这些观察结果，作者提出了一个假说，即涉及未知精子发生调节基因的位置效应在男性不育中起关键作用。
