期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 67, 期 2, 页码 320-332出版社
UNIV CHICAGO PRESS
DOI: 10.1086/302998
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资金
- NHGRI NIH HHS [F32 HG000174, 1 F32 HG00174-01] Funding Source: Medline
- NICHD NIH HHS [1-R01-HD36715-01] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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 (similar to 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.
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