1. Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation
- Author
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Yanwei Sha, Zhi-Yong Ji, Shaobin Lin, Xu Wang, Qing Zhang, Yan-Kun Sha, Ping Li, Yue-Qiang Song, Honggen Ouyang, Chong Shi, Lu Ding, and Lin Shao
- Subjects
0301 basic medicine ,Genetics ,030219 obstetrics & reproductive medicine ,MALBAC ,Robertsonian translocation ,Aneuploidy ,Nucleic acid amplification technique ,Biology ,medicine.disease_cause ,medicine.disease ,DNA sequencing ,Male infertility ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,medicine ,Gamete generation ,Homologous recombination ,Genetics (clinical) - Abstract
Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients. With the profiled information, chromosomal aberrations were identified on a whole-genome, per-sperm basis. We found that the previously reported interchromosomal effect might not exist with RT carriers. It is suggested that single-cell genome sequencing enables comprehensive chromosomal aneuploidy screening and provides a powerful tool for studying gamete generation from patients carrying chromosomal diseases.
- Published
- 2017
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