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Science 30 May 1980: Vol. 208. no. 4447, pp. 1042 - 1044 DOI: 10.1126/science.7375916
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Articles
Science, Vol 208, Issue 4447, 1042-1044
Copyright © 1980 by American Association for the Advancement of Science
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14
RS Sparkes,
MC Sparkes,
MG Wilson,
JW Towner,
W Benedict,
AL Murphree,
and
JJ Yunis
The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.
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