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Chromosomal constitution of human spermatocytic seminomas: comparative genomic hybridization supported by conventional and interphase cytogenetics.

机译:人类精细胞精原细胞瘤的染色体组成:常规和相间细胞遗传学支持的比较基因组杂交。

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摘要

No data on the chromosomal constitution of spermatocytic seminomas are available thus far because of their rarity. Ploidy analysis performed on paraffin-embedded cases showed varying results from (near-) diploid to aneuploid. We applied comparative genomic hybridization on four snap-frozen primary spermatocytic seminomas of three different patients. Conventional cytogenetic analysis was successful in one, and "interphase cytogenetics" with centromeric region-specific probes was applied to another. The results from comparative genomic hybridization showed almost exclusively numerical chromosomal aberrations, in agreement with the data from karyotyping. Despite the limited number of cases studied, a nonrandom pattern of chromosome imbalances was detected: chromosome 9 was gained in all spermatocytic seminomas. This suggests that that this aberration plays a role in the development of this cancer. Interphase cytogenetics shows that the copy number of most chromosomes ranges from two to four, with an average of near trisomic. This constitutes the first report on the chromosomal constitution of spermatocytic seminomas.
机译:迄今为止,由于其稀有性,尚无关于精细胞精原细胞瘤染色体结构的数据。对石蜡包埋的病例进行的倍性分析显示,从(近)二倍体到非整倍体,结果各不相同。我们将比较基因组杂交技术应用于三位不同患者的四次速冻原发性精细胞精原细胞瘤。常规的细胞遗传学分析在一种方法中是成功的,而具有着丝粒区域特异性探针的“相间细胞遗传学”则应用于另一种方法。比较基因组杂交的结果几乎完全显示了数值染色体畸变,与核型分析数据一致。尽管研究的病例数有限,但仍检测到染色体失衡的非随机模式:在所有精细胞精原细胞瘤中均获得了9号染色体。这表明这种畸变在该癌症的发展中起作用。相间细胞遗传学表明,大多数染色体的拷贝数为2至4,平均接近三体染色体。这是关于精细胞精原细胞瘤染色体结构的首次报道。

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