A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21

Hum Mol Genet. 1994 Oct;3(10):1811-7. doi: 10.1093/hmg/3.10.1811.

Abstract

The region surrounding D21S55 in band 21q22 of human chromosome 21 has been implicated in the etiology of Down syndrome (DS). In this paper, we report the construction of a high resolution map of a 2.5 Mb region around the marker D21S55. Characterization of YAC clones by accurate size determination, end isolation and marker assignment was used to build a refined YAC-based map. The YAC clones were then used to isolate 284 cosmid clones, covering 2.3 Mb, from a chromosome 21-specific cosmid library. The cosmid clones were ordered into overlapping groups and a restriction map of each group was determined. The groups of cosmids were then ordered and oriented with respect to the YAC-based map. This high resolution map provides the framework for further analysis of the region by transcribed sequence mapping and sequence determination.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Composition
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 21*
  • Cosmids
  • DNA / analysis
  • Down Syndrome / genetics*
  • Gene Library
  • Genetic Markers
  • Humans
  • Polymerase Chain Reaction

Substances

  • Genetic Markers
  • DNA