TY - JOUR
T1 - A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21
AU - Ohira, Miki
AU - Ichikawa, Hitoshi
AU - Suzuki, Emiko
AU - Iwaki, Masaharu
AU - Suzuki, Kazunobu
AU - Saito-Ohara, Fumiko
AU - Ikeuchi, Tatsuro
AU - Chumakov, Ilya
AU - Tanahashi, Hiroshi
AU - Tashiro, Kosuke
AU - Sakaki, Yoshiyuki
AU - Ohki, Misao
PY - 1996/4/1
Y1 - 1996/4/1
N2 - 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 detailed analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including gene isolation and sequencing of the DS region.
AB - 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 detailed analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including gene isolation and sequencing of the DS region.
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U2 - 10.1006/geno.1996.0160
DO - 10.1006/geno.1996.0160
M3 - Article
C2 - 8617511
AN - SCOPUS:17644430449
VL - 33
SP - 65
EP - 74
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -