Martin Christa Lese, Ledbetter David H
Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania.
Curr Protoc Hum Genet. 2015 Jan 20;84:8.11.1-8.11.15. doi: 10.1002/0471142905.hg0811s84.
Genomic imbalances involving the telomeric regions of human chromosomes, which contain the highest gene concentration in the genome, are proposed to have severe phenotypic consequences. For this reason, it is important to identify telomere rearrangements and assess their contribution to human pathology. This unit describes the structure and function of human telomeres and outlines several methodologies that can be employed to study these unique regions of human chromosomes. It is a revision of the original version of the unit published in 2000, now including an introductory section describing advances in the discipline that have taken place since the original publication.
涉及人类染色体端粒区域的基因组失衡被认为会产生严重的表型后果，而端粒区域是基因组中基因浓度最高的地方。因此，识别端粒重排并评估它们对人类病理学的影响非常重要。本单元描述了人类端粒的结构和功能，并概述了几种可用于研究人类染色体这些独特区域的方法。它是2000年出版的该单元原始版本的修订版，现在包括一个介绍性部分，描述自原始出版物以来该学科取得的进展。
