Comparative analysis of telomere regions in human blastocysts between maternal age groups by next-generation sequencing

Abstract

The retrospective investigation was carried out to compare the telomere regions using next-generation sequencing (NGS) technique in human blastocysts derived from infertile Asian couples classified into two different maternal age groups. Bioinformatics methods were used to compare the average telomere length and telomeric repeated sequences (TTAGGG) of 94 human blastocysts derived from two maternal age groups, young mothers (≤35 years, N=47), old mothers (> 35 years, N=44). Patients subjected to chromosome screening were due to advanced maternal age (older than 35 years) and / or mothers with recurrence miscarriage or implantation failure. BAM files were selected from all patients undergoing preimplantation blastocyst biopsied on day 5 or day 6 after insemination with chromosome screening by NGS technique. We found that the majority of chromosome arms were not significantly different between the two maternal groups. The longer telomere length was found in older mother group’s chromosome arms 1P, 2Q, 3P, 5P, 9Q, 11P and 15Q (P < 0.05, 15%), while the majority of chromosome arms was not different. Most chromosome arms were not different in telomeric repeated sequences between the two maternal groups, whereas the chromosome arms 1Q, 2Q, 9Q, 12Q, 13P and 20P were significantly distinct (P < 0.05, 13%). Therefore, we successfully applied the bioinformatics approach for determination of telomere length and telomeric repeated sequences based on NGS data, and these differences detected might be correlated with reproductive outcome clinically.