Regional Assignment of Genes for Human Esterase D and Retinoblastoma to Chromosome Band 13q14
Robert S. Sparkes(University of California, Los Angeles), Maryellen C. Sparkes(University of California, Los Angeles), Miriam G. Wilson(University of Southern California), Joseph W. Towner(University of Southern California), William Benedict(Children's Hospital of Los Angeles), A. Linn Murphree(University of Southern California), Jorge J. Yunis(University of Minnesota Medical Center)
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Abstract
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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