相关实验视频
Updated: May 8, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
36.8K
超越既定规范的新见解:对不孕男性遗传检测的全面审查
Hamid Kalantari1, Marjan Sabbaghian2, Paraskevi Vogiatzi3
1Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. h.kalantari@royaninstitute.org.
Urology journal
|May 8, 2024
概括
对男性不孕症的遗传查是复杂的. 本综述澄清了卡里奥类型和AZF查的指示,指导临床医生在成本效益,以患者为中心的方法来管理不孕症.
科学领域:
- 生殖医学 生殖医学
- 临床遗传学 临床遗传学
- 男人不孕症诊断 诊断 男人不孕症诊断
背景情况:
- 目前的指导方针为男性不孕症的遗传查提供了模两可的建议.
- 缺少用于心型定型和AZF查的标准化协议导致成本增加和患者痛苦.
- 对基因检测的客观评估对于不育男性来说至关重要.
研究的目的:
- 绘制现有文学关于临床指示的图形化和AZF查在不育的男性.
- 识别关键概念,研究差距和男性不孕不育遗传测试的共识.
- 提供关于男性不孕症诊断的各种研究结论的概述.
主要方法:
- 在PubMed (MEDLINE) 进行全面的文献搜索,截至2023年7月.
- 关键词包括: 型, 克莱因菲尔特 (KS, 47,XXY), AZF, 亚子精, 微删除.
- 审查了来自18个国家的30篇选定的论文,分析了5至59的序列标记站点 (STSs).
主要成果:
- 包括来自191个已识别的记录的30篇论文;161篇被排除在外.
- 在非阻塞性亚子精子症 (NOA) 中,AZF删除率在1.3%至53% (平均5.6%) 之间.
- 在63%的研究中,XXY karyotype中没有Y染色体微删除 (YCM),在其他研究中则从0.8%到67%不等.
结论:
- 对于AZFb/AZFbc微切除的个体,精子提取是可能的.
- 对于马赛克或经典的Klinefelter综合征 (KS),AZF查是不必要的.
- 对精子度为1-5x10^6/mL的男性进行AZF查可能需要重新评估;建议对马赛克单体X和某些染色体异常进行转诊.
相关概念视频
Spermatogenesis
Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male reproductive...
Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Infertility in Males
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
Infertility in Females
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of endometrial...
Endometriosis, a condition characterized by abnormal growth of endometrial...
Behavioral Genetics and Its Designs
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

