Abstract：
Short telomeres cause age-related disease, and long telomeres contribute to cancer; however, the mechanisms regulating telomere length are unclear. We developed a nanopore-based method, which we call Telomere Profiling, to determine telomere length at nearly single-nucleotide resolution. Mapping telomere reads to chromosome ends showed chromosome end-specific length distributions that could differ by more than six kilobases. Examination of telomere lengths in 147 individuals revealed that certain chromosome ends were consistently longer or shorter. The same rank order was found in newborn cord blood, suggesting that telomere length is determined at birth and that chromosome end-specific telomere length differences are maintained as telomeres shorten with age. Telomere Profiling makes precision investigation of telomere length widely accessible for laboratory, clinical, and drug discovery efforts and will allow deeper insights into telomere biology.
摘要：
短端粒导致与年龄有关的疾病和长端粒易患癌症;然而，端粒长度的调节机制尚不清楚.我们开发了一种基于纳米孔的方法，端粒剖面，以接近单核苷酸分辨率确定端粒长度。将端粒读数映射到染色体末端显示染色体末端特异性长度分布，差异可能超过6千碱基。147个个体的端粒长度显示某些染色体末端始终更长或更短。在新生儿脐带血中发现了相同的等级顺序，表明端粒长度是在出生时确定的，并且随着端粒随着年龄的增长而缩短，染色体末端特异性端粒长度差异得以维持。端粒分析使得端粒长度的精确研究可广泛用于实验室，临床,和药物发现的努力，并将允许更深入地了解端粒生物学。
