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PMID: 10869233 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

An optimized set of human telomere clones for studying telomere integrity and architecture.

American journal of human genetics ·Vol. 67 ·No. 2 ·2000-08-00 ·Pages 320-32

Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J

Abstract

Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a known distance from the end of the chromosome ( approximately 300 kb), and 7 clones corresponding to the most distal markers on the integrated genetic/physical map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified. For each clone we give an associated mapped sequence-tagged site and provide distances from the telomere estimated using a combination of fiberFISH, interphase FISH, sequence analysis, and radiation-hybrid mapping. This updated set of telomeric clones is an invaluable resource for clinical diagnosis and represents an important contribution to genetic and physical mapping efforts aimed at telomeric regions.

MeSH Terms
Chromosomes, Artificial, Yeast/genetics Chromosomes, Human/chemistry,genetics Cloning, Molecular DNA Probes/genetics Genetic Markers/genetics Humans Hybrid Cells In Situ Hybridization, Fluorescence Interphase Physical Chromosome Mapping Polymorphism, Genetic/genetics Sequence Analysis, DNA Sequence Tagged Sites Telomere/chemistry,genetics
Chemicals
DNA Probes Genetic Markers
Authors & Affiliations
16 authors, click to expand affiliations / ORCID
Knight S J
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.
Lese C M
Precht K S
Kuc J
Ning Y
Lucas S
Regan R
Brenan M
Nicod A
Lawrie N M
Cardy D L
Nguyen H
Hudson T J
Riethman H C
Ledbetter D H
Flint J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302998
Published
2000-08-00
Epub
2000-00-22
Pages
320-32
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1287181
Subset
IM
Grants
NHGRI NIH HHS · F32 HG000174 · United States
NHGRI NIH HHS · 1 F32 HG00174-01 · United States
NICHD NIH HHS · 1-R01-HD36715-01 · United States
External Links
PubMed source DOI: 10.1086/302998 PMC Full Text View journal details
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