A 1.6-Mb P1-Based Physical Map of the Down Syndrome Region on Chromosome 21

Autor: Ohira, Miki, Ichikawa, Hitoshi, Suzuki, Emiko, Iwaki, Masaharu, Suzuki, Kazunobu, Saito-Ohara, Fumiko, Ikeuchi, Tatsuro, Chumakov, Ilya, Tanahashi, Hiroshi, Tashiro, Kosuke, Sakaki, Yoshiyuki, Ohki, Misao
Zdroj: Genomics; April 1996, Vol. 33 Issue: 1 p65-74, 10p
Abstrakt: 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 markerD21S55betweenD21S17andERGin 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 aNotI site, LA68 (D21S396,which is mapped distal toD21S17) andERG,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 usingBamHI 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.
Databáze: Supplemental Index