Prem Pranjal, Muneshwar Komal N, Agrawal Suyash, Jaiswal Arpita
Community Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2023 Nov 18;15(11):e49000. doi: 10.7759/cureus.49000. eCollection 2023 Nov.
This comprehensive review explores the multifaceted relationship between increased homozygosity and human fertility, delving into the genetic, ethical, cultural, and public health dimensions of this complex phenomenon. Homozygosity, characterized by identical alleles at specific gene loci, can result from consanguineous marriages, genetic drift, and population isolation. The review highlights key findings, including the heightened risk of recessive genetic disorders, the implications for immune system diversity, and the influence on complex traits and diseases. It underscores the critical role of genetic counseling in addressing these consequences, considering the ethical implications, and respecting cultural practices. The delicate balance between genetic diversity and cultural norms is emphasized, calling for increased awareness and community engagement. Looking ahead, the review suggests emerging technologies, longitudinal studies, and interdisciplinary research as crucial avenues for further exploration, with the ultimate goal of informing effective public health policies and interventions that safeguard genetic diversity and cultural traditions for future generations.
这篇全面的综述探讨了纯合性增加与人类生育能力之间的多方面关系,深入研究了这一复杂现象的遗传、伦理、文化和公共卫生层面。纯合性表现为特定基因座上的等位基因相同,可由近亲结婚、遗传漂变和种群隔离导致。该综述突出了关键发现,包括隐性遗传疾病风险增加、对免疫系统多样性的影响以及对复杂性状和疾病的影响。它强调了遗传咨询在应对这些后果、考虑伦理影响以及尊重文化习俗方面的关键作用。强调了遗传多样性与文化规范之间的微妙平衡,呼吁提高认识和社区参与。展望未来,该综述建议新兴技术、纵向研究和跨学科研究是进一步探索的关键途径,最终目标是为有效的公共卫生政策和干预措施提供信息,以保障后代的遗传多样性和文化传统。