胚胎遗传学。
Embryo Genetics.
机构信息
EmbryoGenetics Department, Igenomix, 46980 Valencia, Spain.
Professor of Obstetrics & Gynecology, Valencia University, 46010 Valencia, Spain.
出版信息
Genes (Basel). 2021 Jan 19;12(1):118. doi: 10.3390/genes12010118.
Abstract
Advances in embryo and reproductive genetics have influenced clinical approaches to overcome infertility. Since the 1990s, many attempts have been made to decipher the genetic causes of infertility and to understand the role of chromosome aneuploidies in embryo potential. At the embryo stage, preimplantation genetic testing for chromosomal abnormalities and genetic disorders has offered many couples the opportunity to have healthy offspring. Recently, the application of new technologies has resulted in more comprehensive and accurate diagnoses of chromosomal abnormalities and genetic conditions to improve clinical outcome. In this Special Issue, we include a collection of reviews and original articles covering many aspects of embryo diagnosis, genome editing, and maternal-embryo cross-communication during the implantation process.
摘要
胚胎和生殖遗传学的进步影响了克服不孕的临床方法。自 20 世纪 90 年代以来，人们已经做出了许多尝试来破译不孕的遗传原因，并了解染色体非整倍体在胚胎潜能中的作用。在胚胎阶段，对染色体异常和遗传疾病的胚胎植入前遗传学检测为许多夫妇提供了拥有健康后代的机会。最近，新技术的应用导致了对染色体异常和遗传状况的更全面和准确的诊断，以改善临床结果。在本期特刊中，我们收录了一系列评论和原创文章，涵盖了胚胎诊断、基因组编辑以及胚胎着床过程中母体-胚胎交叉通讯的多个方面。
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Use of Customizable Nucleases for Gene Editing and Other Novel Applications.定制核酸内切酶在基因编辑及其他新应用中的使用。
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Preimplantation Genetic Testing for Monogenic Disorders.胚胎植入前遗传学检测用于单基因疾病。
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Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR.PGT-A 和 PGT-SR 中检测非整倍体和嵌合体及不平衡的优化 NGS 方法。
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Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer.常染色体显性遗传性多囊肾病的联合植入前遗传学检测：对可用于移植的胚胎的影响。
Genes (Basel). 2020 Jun 24;11(6):692. doi: 10.3390/genes11060692.
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Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.胚胎植入前遗传学检测染色体异常：非整倍体、嵌合体和结构重排。
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