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Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses

✍ Scribed by Koh-Ichiro Yoshiura; Johji Inazawa; Kumiko Koyama; Dr. Yusuke Nakamura; Norio Niikawa

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
395 KB
Volume
9
Category
Article
ISSN
1045-2257

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✦ Synopsis

K.Y., N.N.), Japan A detailed cytogenetic map was constructed around the chromosomal breakpoint of t(8 I 3) observed in a patient with multiple exostores. The order of seven loci defined by cosmid clones mapped to 8q23 was determined by means of two-color fluorescence in situ hybridization (FISH) on elongated prophase chromosomes, and localizations of these markers relative to the breakpoint were examined. m e results indicated that loci defined by cC18-553 and cC18-1512 flank the breakpoint. By pulsed-field gel electrophoresis of DNA digested with BssHII and Southern hybridization with CC 18-I5 12, DNA from the patient showed a band which was not observed in DNA isolated from either parent. As the normal size of this BssHll fragment is 600 kb, the chromosomal breakpoint probably lies leu than 600 kb away from cC18-I5 12. Genes Chrom Cancer 957-61 ( 1994). 0 I994 Wiley-Liss, Inc.

MATERIALS AND METHODS

Cell

Line

A cell line was developed by immortalization of peripheral lymphocytes with Epstein-Barr virus from a patient with multiple exostoses and a

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