Analysis of genomic copy number variation in 48 azoospermia patients with chromosomal abnormalities

Abstract

Abstract Background: To explore the copy number variation (CNV) of genome in azoospermia patients with chromosomal abnormalities, and to lay a foundation for elucidating the genetic factors of spermatogenesis. Methods: 204 patients with azoospermia were analyzed by G banding karyotype analysis; The next generation sequencing technology (NGS) is used to detect CNV, screen out CNVs related genes, and determine by referring to the latest published data of human genome hg19 version, genome variation database (DGV), human chromosome imbalance and phenotype database (DECIPHER), online human Mendelian genetic database (OMIM), University of California Santa Cruz database (UCSC), PubMed and other public databases. All data are entered into EXCEL table, and the percentage and proportion of each indicator are statistically analyzed. Results: Among 204 patients with azoospermia, 48 patients had chromosomal abnormalities (23.53%), of which 47, XXY (47.92%), 46, X, Yqh - (12.50%), 46, XY, 16qh+(6.25%) accounted for more than 5%; Chromosome abnormalities were found in 48 patients, including 43 patients with CNV, including 28 patients with 1 CNV, 11 patients with 2 CNVs, 2 patients with 3 CNVs, and 2 patients with 4 CNVs. The X chromosome (39.68%), Y chromosome (14.29%), and chromosome 15 (6.35%) accounted for more than 5% of the total; Among 63 CNVs, the fragment size was 0.10~2.38Mb, and 90 related genes were detected, including 26 deletions and 64 repeats. Conclusion:G-banding karyotype analysis combined with NGS detection can provide more complete genetic evaluation for azoospermic patients, which is worth popularizing.