复发性流产的遗传因素研究进展。

IF 1.4 4区 生物学 Q4 GENETICS & HEREDITY Genetics research Pub Date : 2023-01-01 DOI:10.1155/2023/9164374
Qinlan Li, Shuting Chen, Xinyi Dong, Sen Fu, Tianyu Zhang, Weiwei Zheng, Yonghong Tian, Donghui Huang
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引用次数: 0

摘要

复发性妊娠丢失(RPL)是影响约1-5%育龄妇女的精神和身体健康问题。RPL的病因复杂,涉及染色体异常、自身免疫性疾病、代谢紊乱和子宫内膜功能障碍。在这些病例中,超过50%的堕胎原因仍然不明。随着科学技术的发展,越来越多的学者关注这一领域,发现遗传因素可能在不明原因RPL中起着至关重要的作用,如栓塞相关基因、免疫因素相关基因、染色体数量、结构变异等。本文综述了与RPL相关的遗传因素,包括基因突变和遗传多态性、染色体变异和染色体多态性。许多相关的遗传因素已被发现与人口统计学和地理相关,其中一些可用于RPL的风险预测或病因筛查。然而,由于RPL的发病机制不确定,临床表现多变,难以预测和预防。因此,RPL的遗传因素仍需要大量的研究,以获得更准确的了解其发病机制,并为RPL的筛查和预防提供更多的检测手段。
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The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss.

Recurrent pregnancy loss (RPL) is both mental and physical health problem affecting about 1-5% of women of childbearing age. The etiology of RPL is complex, involving chromosomal abnormalities, autoimmune diseases, metabolic disorders, and endometrial dysfunction. The causes of abortion are still unknown in more than 50% of these cases. With the development of science and technology, an increasing number of scholars focus on this field and find that genetic factors may play an essential role in unexplained RPL, such as embolism-related genes, immune factor-related genes, and chromosomal numeric, and structural variation. This review summarizes the genetic factors associated with RPL, including genetic mutations and genetic polymorphisms, chromosomal variants, and chromosomal polymorphisms. Many related genetic factors have been found to be demographically and geographically relevant, some of which can be used for risk prediction or screening for the etiology of RPL. However, it is difficult to predict and prevent RPL due to uncertain pathogenesis and highly variable clinical presentation. Therefore, the genetic factors of RPL still need plentiful research to obtain a more accurate understanding of its pathogenesis and to provide more detection means for the screening and prevention of RPL.

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来源期刊
Genetics research
Genetics research 生物-遗传学
自引率
6.70%
发文量
74
审稿时长
>12 weeks
期刊介绍: Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.
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