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High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.

Abstract：

:The identification and mapping of genes within the Down syndrome region is an important step toward a complete understanding of the pathogenesis of this disorder. The objective of the present work is to identify and map genes within the Down syndrome region-2. Chromosome 21 cosmid clones corresponding to "cosmid pockets" 121-124 have been first used as a starting material for generation of a single high resolution integrated cosmid/PAC contig with full EcoRI/SmaI restriction map. The integrated contig has been further anchored to genetic and physical maps through the positioning of 6 markers in the following order: ACTL5-D21S3-684G2T7-D21S71-D21S343-D21S 268. The entire contig covers 342 kb of the Down syndrome region-2 of chromosome 21. Subsequently, we have isolated, identified, and mapped four novel cDNAs which we have named N143, N144, CHD/333, and 90/3H1 and a potentially transcribed genomic sequence (E05133T7). Additionally, we have accurately located a previously described gene, the WRB gene, between the markers ACTL5-D21S268 within this Down Syndrome Region-2.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Vidal-Taboada JM,Bergoñón S,Sánchez M,López-Acedo C,Groet J,Nizetic D,Egeo A,Scartezzini P,Katsanis N,Fisher EM,Delabar JM,Oliva R

doi

10.1006/bbrc.1998.8141

subject

Has Abstract

pub_date

1998-02-13 00:00:00

pages

572-8

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(98)98141-4

journal_volume

243

pub_type

杂志文章

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