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首页> 外文期刊>Journal of Clinical Medicine and Research >Array comparative genomic hybridization (CGH) analysis of sperm DNA to detect copy number variations in infertile men with idiopathic azoospermia
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Array comparative genomic hybridization (CGH) analysis of sperm DNA to detect copy number variations in infertile men with idiopathic azoospermia

机译：精子DNA的阵列比较基因组杂交（CGH）分析，以检测不育男性特发性无精症的拷贝数变异

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Epididymal and testicular spermatozoa of azoospermic patients are frequently used for intracytoplasmic sperm injection (ICSI), so they must be screened for genetic abnormalities. The objective of our study was to investigate whole genome imbalances in immature germ cells found in ejaculates of six males with idiopathic azoospermia and normal karyotype. We used for the first time the most powerful tool for genetic screening - microarray-based technology of comparative genomic hybridization (array CGH) with microarrays, covering all autosomes and sex-chromosomes at a mean density of 1 BAC clone/0.5 Mb. Sub-microscopic copy number variations were found in sperm DNA of all analyzed patients. The most consistent were aberrations in Y-chromosome - they occurred in 5 out of 6 patients (83.3%). These Y micro-aberrations included both micro-deletions and micro-duplications. In addition to Y chromosomal micro-imbalances, we detected several other affected loci. These included 1р36 deletion together with 14q24 gain, 16q24 deletion, 9q34 gain and 3q29 deletion. By array CGH analysis we determined cryptic whole genome imbalances in sperm cells and defined the most precisely the size and the boundaries of aberrations.
机译：无精症患者的附睾和睾丸精子经常用于胞浆内精子注射（ICSI），因此必须筛查其遗传异常。我们研究的目的是调查在六名患有特发性无精症和正常核型的男性的射精中发现的未成熟生殖细胞的全基因组失衡。我们首次使用了最强大的遗传筛选工具-基于微阵列的比较基因组杂交技术（阵列CGH）与微阵列，涵盖了所有常染色体和性染色体，平均密度为1 BAC克隆/0.5 Mb。在所有分析过的患者的精子DNA中发现亚显微拷贝数变异。最一致的是Y染色体畸变-在6名患者中有5名发生（83.3％）。这些Y微像差包括微缺失和微重复。除了Y染色体微失衡，我们还检测到其他几个受影响的基因座。这些包括1р36缺失以及14q24增益，16q24缺失，9q34增益和3q29缺失。通过阵列CGH分析，我们确定了精子细胞中隐秘的全基因组失衡，并最精确地定义了像差的大小和边界。

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