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Estimation of the frequency of recombination in the inversion loop in a carrier of polymorphic paracentric inversion 8p23.1

https://doi.org/10.25557/2073-7998.2022.12.60-63

Abstract

The 8p23.1 paracentric inversion is the largest polymorphic inversion in the human genome. As a result of meiotic malsegregation of paracentric inversion, gametes and subsequently zygotes are formed with recombinant chromosomes, namely with a chromosomal genomic imbalance such as an inverted duplication with an adjacent deletion (inv dup del) or with a terminal deletion (del). In this study, for the first time, the frequency of recombination in the inversion loop was estimated in a carrier of polymorphic paracentric inversion 8p23.1. It was shown that the frequency with which meiotic recombination happens in male gametogenesis is 0.03%.

About the Authors

D. A. Yurchenko
Research Centre for Medical Genetics
Russian Federation


A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation


M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation


Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation


N. V. Shilova
Research Centre for Medical Genetics
Russian Federation


References

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Review

For citations:


Yurchenko D.A., Tarlycheva A.A., Minzhenkova M.E., Markova Zh.G., Shilova N.V. Estimation of the frequency of recombination in the inversion loop in a carrier of polymorphic paracentric inversion 8p23.1. Medical Genetics. 2022;21(12):60-63. (In Russ.) https://doi.org/10.25557/2073-7998.2022.12.60-63

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