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© 1994 Oxford University Press

OTHER

Sequence organization of the human chromosome 2q telomere

Roberto A. Macina, Dmitri G. Negorev+, Chrysanthe Spais, Lisa A. Ruthig, Xue-Lan Hu and Harold C. Riethman*

The Wistar Institute 3601 Spruce Street, Philiadelphia, PA 19104, USA

*To whom correspondence should be addressed

+permanent address: Institute of Molecular Genetics, Russian Academy of Science, Kurchatov Square 46, 123182 Moscow, Russia

Received June 15, 1994; Revised August 16, 1994; Accepted August 16, 1994

The terminal 240 kb of a human 2q telomere region was cloned in two overlapping yeast artificial-chromosomes (YACs). This DNA contains a region of low-copy subtelomeric repeats (within 50 kb of the 2q telomere), a segment of DNA duplicated on distal 8p23 (100 kb from the 2q telomere), and a region of single-copy DNA (230 kb from the 2q telomere). Two CpG islands are present in the DNA segment duplicated on distal 8p23. RecA-assisted restriction endonuclease cleavage of genomic DNA samples revealed a potential 55 kb chromosome length polymorphism at the 2q telomere. This work provides telomeric closure of maps for human chromosome 2q, demonstrates a novel, subtelomere-specific DNA duplication, and will permit detailed molecular and cytological studies of this human telomere region.


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