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.

译文

以前已经报道过Y-常染色体易位与男性不育有关。但是,Y常染色体易位和非阻塞性无精子症或严重少精子症的机制仍不清楚。进行了G带和荧光原位杂交(FISH)来分析染色体的易位,并使用单核苷酸多态性(SNP)基因型分析法来测试突变。本研究描述了三个新病例,它们具有新的平衡易位t(Y; 13),t(Y; 9)和t(Y; 6)。为了进一步探讨基因型与表型的相关性,进行了G谱带和FISH并表明存在衍生染色体。使用微阵列的SNP基因分型分析没有发现异常,特别是在Y染色体中。分子缺失分析表明,在所检查的不育男人的Y染色体的无精子因子区域中未检测到微缺失。基于这些观察,作者提出了一个假设,即涉及未知精子发生调控基因的位置效应在男性不育中起关键作用。

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