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Title: A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21

Abstract

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.

Authors:
;  [1];  [2]
  1. National Cancer Center Research Institute, Tokyo (Japan)
  2. National Cancer Center Research Institute, Tokyo (Japan); and others
Publication Date:
OSTI Identifier:
465925
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 33; Journal Issue: 1; Other Information: PBD: 1 Apr 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 21; GENETIC MAPPING; DNA-CLONING; DNA SEQUENCING; CHROMOSOMAL ABERRATIONS; CONTIGS; DESIGN; PATIENTS; DOWNS SYNDROME; MENTAL DISORDERS; HEREDITARY DISEASES; HUMAN CHROMOSOMES; JAPAN; BIOLOGICAL MARKERS; IN-SITU HYBRIDIZATION; FLUORESCENCE; ELECTROPHORESIS

Citation Formats

Ohira, Miki, Suzuki, Kazunobu, Kazusa DNA Research Institute, Chiba, and Ichikawa, Hitoshi. A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0160.
Ohira, Miki, Suzuki, Kazunobu, Kazusa DNA Research Institute, Chiba, & Ichikawa, Hitoshi. A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21. United States. https://doi.org/10.1006/geno.1996.0160
Ohira, Miki, Suzuki, Kazunobu, Kazusa DNA Research Institute, Chiba, and Ichikawa, Hitoshi. 1996. "A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21". United States. https://doi.org/10.1006/geno.1996.0160.
@article{osti_465925,
title = {A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21},
author = {Ohira, Miki and Suzuki, Kazunobu and Kazusa DNA Research Institute, Chiba and Ichikawa, Hitoshi},
abstractNote = {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.},
doi = {10.1006/geno.1996.0160},
url = {https://www.osti.gov/biblio/465925}, journal = {Genomics},
number = 1,
volume = 33,
place = {United States},
year = {Mon Apr 01 00:00:00 EST 1996},
month = {Mon Apr 01 00:00:00 EST 1996}
}