A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21
- National Cancer Center Research Institute, Tokyo (Japan)
- National Cancer Center Research Institute, Tokyo (Japan); and others
The Down Syndrome (DS) region on chromosome 21, which is responsible for the main features of DS such as characteristic facial features, a congenital heart defect, and mental retardation, has been defined by molecular analysis of DS patients with partial trisomy 21. The 2.5-Mb region around the marker D21S55 between D21S17 and ERG in 21q22 is thought to be important, although contributions of other regions cannot be excluded. In this region, we focused on a 1.6-Mb region between a NotI site, LA68 (D21S396, which is mapped distal to D21S17) and ERG, because analysis of a Japanese DS family with partial trisomy 21 revealed that the proximal border of its triplicated region was distal to LA68. We constructed P1 contigs with 46 P1 clones covering more than 95% of the 1.6-Mb region. A high-resolution restriction map using BamHI was also constructed for more details analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including isolation and sequencing of the DS region. 31 refs., 7 figs., 1 tab.
- OSTI ID:
- 465925
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 33; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
Down syndrome phenotypes: The consequences of chromosomal imbalance
Tetrasomy 21 pter {yields} q22.1 and Down syndrome: Molecular definition of the region