人类Y染色体：基于自然发生缺失的43区间图谱。

The human Y chromosome: a 43-interval map based on naturally occurring deletions.

作者信息

Vollrath D, Foote S, Hilton A, Brown L G, Beer-Romero P, Bogan J S, Page D C

机构信息

Howard Hughes Research Laboratories, Whitehead Institute, Cambridge, MA.

出版信息

Science. 1992 Oct 2;258(5079):52-9. doi: 10.1126/science.1439769.

DOI:10.1126/science.1439769

PMID:1439769

Abstract

A deletion map of the human Y chromosome was constructed by testing 96 individuals with partial Y chromosomes for the presence or absence of many DNA loci. The individuals studied included XX males, XY females, and persons in whom chromosome banding had revealed translocated, deleted, isodicentric, or ring Y chromosomes. Most of the 132 Y chromosomal loci mapped were sequence-tagged sites, detected by means of the polymerase chain reaction. These studies resolved the euchromatic region (short arm, centromere, and proximal long arm) of the Y chromosome into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints and averaging less than 800 kilobases in length. This deletion map should be useful in identifying Y chromosomal genes, in exploring the origin of chromosomal disorders, and in tracing the evolution of the Y chromosome.

摘要

通过检测96名部分Y染色体个体中许多DNA位点的存在与否，构建了人类Y染色体的缺失图谱。所研究的个体包括XX男性、XY女性，以及染色体显带显示有易位、缺失、等臂双着丝粒或环状Y染色体的个体。绘制图谱的132个Y染色体位点大多是序列标签位点，通过聚合酶链反应检测。这些研究将Y染色体的常染色质区域（短臂、着丝粒和近端长臂）解析为43个有序区间，所有区间均由自然发生的染色体断点界定，平均长度小于800千碱基。该缺失图谱在鉴定Y染色体基因、探索染色体疾病的起源以及追踪Y染色体的进化方面应会有所帮助。