Y染色体相关遗传病

Y chromosome-related genetic diseases

Y染色体作为男性特有的染色体,一直以来都备受关注。Y染色体结构复杂、缺少重组,其上存在大量的重复、扩增和回文序列,少量的蛋白编码基因,同时包含大量的异染色质,导致对其进行测序异常困难,并致使对Y染色体的研究成为难题。近年来,随着测序技术的飞速发展,Y染色体DNA的序列组成和基因含量的确定,越来越多的机构开始展开对Y染色体的研究。本文对人类Y染色体的结构组成与基因功能进行了总结,并根据目前的研究进展对Y染色体相关的遗传病进行梳理,以期为研究者提供参考。

As a male-specific chromosome,the structure of Y chromosome is complex and lacks of recombination,with numerous repeating,amplifying and palindromic sequences.The research of Y chromosome is difficult and slow since there are few protein coding genes and a large amount of heterochromatin which has caused extreme difficulty for sequencing.In recent years,an increasing number of studies have been focused on the Y chromosome.With the completion of the sequencing of human Y chromosome,the rapid development of sequencing technology,and the composition of DNA sequences in human Y chromosomes and the determination of gene content.This paper has summarized the structural composition and genes function of human Y chromosome,as well as the related hereditary diseases,with an aim to provide reference for Y chromosome-related genetic research.