title: Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation.
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.
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Yanwei
authors.initials: Y
authors.lastname: Sha
authors.affiliation: Liaoning Medical University, Jinzhou City, Liaoning Province, China.
authors.forename: Yankun
authors.initials: Y
authors.lastname: Sha
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Ji
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Ding
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Honggen
authors.initials: H
authors.lastname: Ouyang
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Shaobin
authors.initials: S
authors.lastname: Lin
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Yikon Genomics, Caohejing Development Zone, Shanghai, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Shao
authors.affiliation: Yikon Genomics, Caohejing Development Zone, Shanghai, China.
authors.forename: Chong
authors.initials: C
authors.lastname: Shi
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.affiliation: Center of Reproductive Medicine, Xiamen Maternity and Child Health Hospital, Xiamen, Fujian Province, China.
authors.forename: Yueqiang
authors.initials: Y
authors.lastname: Song
mesh_terms: D000328:Adult; D000782:Aneuploidy; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics; D059785:Karyotype; D008297:Male; D025202:Molecular Diagnostic Techniques; D021141:Nucleic Acid Amplification Techniques; D059010:Single-Cell Analysis; D013094:Spermatozoa; D014178:Translocation, Genetic
keywords: Robertsonian translocation; chromosomal copy number; next generation sequencing; single-cell whole-genome amplification