Yi Yang, Ming Yang, Minjie Shao, Nan Wang, Yifang Yan, Xiaohui Zhu, Liying Yan, Jie Qiao, Zhiqiang Yan
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引用次数: 0
Abstract
Purpose: To determine whether recombination occurring around the breakpoints of translocated chromosomes may affect the accuracy of the current linkage analysis-based diagnosis of reciprocal translocation (RT) embryos.
Methods: Here, we have selected 688 single sperm cells sampled from 14 RT carriers with signed informed consent before semen collection and systematically investigated their chromosomal segregation patterns and potential recombination of translocated chromosomes.
Results: We found that 39.96% of sperm cells showed alternative segregation patterns to produce normal and chromosomally balanced sperm cells, while 39.01% presented with an adjacent-1 segregation pattern, and 16.06% presented with an adjacent-2 segregation pattern, and 4.59% presented with a 3:1 segregation pattern. Moreover, we discovered a previously unknown segregation pattern at 0.38% occurrence. Notably, of the 887 recombination events on RT-associated chromosomes identified, 18 recombination events were located within the range of 5 Mb around breakpoints, among which 10/18 (55.6%) were located within 1-3 Mb of the breakpoint.
Conclusion: Our study provides evidence for recombination within the 5 Mb region flanking the breakpoints of translocated chromosomes, and these results suggest a non-negligible risk in the accurate diagnosis of chromosomal translocation in embryos through current linkage analysis-based diagnostic methods.
期刊介绍：
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
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