相关实验视频

Updated: Jun 13, 2025

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

一个患有反向转位t的患者的精:一个病例报告

Tea Mladenić¹, Anita Barišić², Ivan Vukelić³

¹Department of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.

Urology case reports

|June 11, 2025

概括

这项研究报告了一个罕见的染色体12和15之间的相互转位在一个患有精的男性患者. 这一发现可能有助于了解男性不孕不育的原因.

科学领域:

人类遗传学人类遗传学
生殖生物学生殖生物学
细胞遗传学细胞遗传学

背景情况:

相互转位是染色体异常,涉及非同源染色体之间的细分交换.
这些异常发生在一般人口的0.16-0.2%,但在不育男性中更为普遍 (1.3%).
由于精子运动性降低而表现为精子精子缺血症,是男性不孕症的一个重要因素.

研究的目的:

报告一个罕见的反向转位的病例,t(12;15)(p13.2?q15),在一个被诊断患有精症的男性患者身上.
调查这种特定染色体异常与精子功能受损之间的潜在联系.
强调在无法解释的男性不孕症的情况下进行基因检测的重要性.

主要方法:

使用G-带进行型鉴定,以识别染色体异常.
光在位杂交 (FISH) 通过使用染色体特定的探针来确认特定的转位.
对患者的临床评估,包括对精的精液分析.

主要成果:

G-绑定揭示了12号和15号染色体之间的相互转位,其中型为46,XY,t(12;15)(p13.2?q15).
鱼类分析证实了转移的情况.
患者出现了精,这表明了相关性.

结论:

这一案例突出显示了一种罕见的染色体转位,t(12;15)(p13.2?q15),与34岁男性的精症有关.
这一发现强调了染色体异常在男性不孕症中的作用.
建议进行进一步的分子分析,包括测序,以确定断点并探索基因型-表型相关性.

关键词:

动物精子缺血症 (Asthenozoospermia) 是一种男人不孕不育的情况互惠的转移转移是互惠的转移.精子发生是精子生成.

更多相关视频

Mouse Round Spermatid Injection

Mouse Round Spermatid Injection

Published on: January 26, 2024

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

相关概念视频

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Karyotyping

Karyotyping

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...