男性不孕症的遗传病因:临床和法医影响
Richa Anand1, Vrunda Dave1, Malay Ashvinkumar Shukla2,3
1Laboratory of Forensic Biology and Biotechnology, School of Forensic Science, National Forensic Sciences University, Gandhinagar, 382007, Gujarat, India.
Molecular biology reports
|February 4, 2026
概括
Y染色体微缺陷是男性不孕症的重要原因,患病率因种族和地理位置而异. 标准化查和遗传数据库对于改善诊断和法医应用至关重要.
科学领域:
- 生殖生物学 生殖生物学
- 人类遗传学 人类遗传学
- 法医科学 法医科学
背景情况:
- 男性不孕症影响全球超过50%的病例,Y染色体微切除是关键的遗传因素.
- Y染色体的亚子精子因子 (AZF) 区域经常被删除,AZFc删除是最常见的.
- Y染色体微切除的患病率显示出显著的种族和地理差异.
研究的目的:
- 审查Y染色体微删除在男性不孕症中的流行率和临床意义.
- 探索Y染色体微删除在法医遗传学和调查家谱学中的作用.
- 突出Y-Short并列重复 (STR) 配置解释的挑战,并提出解决方案.
主要方法:
- 关于Y染色体微切除和男性不孕不育的研究的文献综述.
- 分析不同种族和地理群体的流行数据.
- 讨论Y-STR分析的复杂性和验证策略.
主要成果:
- Y染色体微删除,特别是AZFc删除,是男性不孕症的主要原因,在全球范围内患病率各不相同.
- 群/群的部分删除显示了种族相关性,与欧洲/澳大利亚相比,在东部/南部地区观察到更高的流行率.
- 由于非典型的STR形状,Y染色体微切除在法医和亲属分析中存在挑战.
结论:
- Y染色体微删除查对于诊断男性不孕症及其遗传基础至关重要.
- 标准化查协议,统一的测试门和集中式遗传数据库对于临床和法医应用至关重要.
- 需要仔细验证,以防止Y-STR对法医和亲属关系分析的解释错误.
相关概念视频
01:23Infertility in Males
571
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...
571
01:28Infertility in Females
4.9K
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...
Endometriosis, a condition characterized by abnormal growth of...
4.9K
02:16Genetics of Speciation
21.7K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.7K
02:19The Y Chromosome Determines Maleness
8.4K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
8.4K
01:20Disorders of the Male Reproductive System
5.1K
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
5.1K
01:25What is Population Genetics?
64.8K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.8K