基于序列标签位点的人类基因组图谱。

An STS-based map of the human genome.

作者信息

Hudson T J, Stein L D, Gerety S S, Ma J, Castle A B, Silva J, Slonim D K, Baptista R, Kruglyak L, Xu S H, Hu X, Colbert A M, Rosenberg C, Reeve-Daly M P, Rozen S, Hui L, Wu X, Vestergaard C, Wilson K M, Bae J S, Maitra S, Ganiatsas S, Evans C A, DeAngelis M M, Ingalls K A, Nahf R W, Horton L T, Anderson M O, Collymore A J, Ye W, Kouyoumjian V, Zemsteva I S, Tam J, Devine R, Courtney D F, Renaud M T, Nguyen H, O'Connor T J, Fizames C, Fauré S, Gyapay G, Dib C, Morissette J, Orlin J B, Birren B W, Goodman N, Weissenbach J, Hawkins T L, Foote S, Page D C, Lander E S

机构信息

Whitehead-MIT Center for Genome Research, Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.

出版信息

Science. 1995 Dec 22;270(5244):1945-54. doi: 10.1126/science.270.5244.1945.

DOI:10.1126/science.270.5244.1945

PMID:8533086

Abstract

A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases. The project involved assembly of a radiation hybrid map of the human genome containing 6193 loci and incorporated a genetic linkage map of the human genome containing 5264 loci. This information was combined with the results of STS-content screening of 10,850 loci against a yeast artificial chromosome library to produce an integrated map, anchored by the radiation hybrid and genetic maps. The map provides radiation hybrid coverage of 99 percent and physical coverage of 94 percent of the human genome. The map also represents an early step in an international project to generate a transcript map of the human genome, with more than 3235 expressed sequences localized. The STSs in the map provide a scaffold for initiating large-scale sequencing of the human genome.

摘要

已构建出一张人类基因组物理图谱，其中包含15086个序列标签位点（STS），平均间距为199千碱基对。该项目涉及构建一张包含6193个位点的人类基因组辐射杂种图谱，并纳入了一张包含5264个位点的人类基因组遗传连锁图谱。这些信息与针对酵母人工染色体文库对10850个位点进行STS含量筛选的结果相结合，以生成一张由辐射杂种图谱和遗传图谱锚定的整合图谱。该图谱提供了人类基因组99%的辐射杂种覆盖度和94%的物理覆盖度。该图谱也是生成人类基因组转录图谱的国际项目的早期步骤，已有超过3235个表达序列定位。图谱中的STS为启动人类基因组大规模测序提供了一个框架。