Regional Assignment of Genes for Human Esterase D and Retinoblastoma to Chromosome Band 13q14

DOI Web Site 被引用文献7件
  • Robert S. Sparkes
    Division of Medical Genetics, Departments of Medicine, Pediatrics, and Psychiatry, Center for the Health Sciences, University of California, Los Angeles 90024
  • Maryellen C. Sparkes
    Division of Medical Genetics, Departments of Medicine, Pediatrics, and Psychiatry, Center for the Health Sciences, University of California, Los Angeles 90024
  • Miriam G. Wilson
    Genetics Division, Department of Pediatrics, University of Southern California, Los Angeles County Medical Center, Los Angeles 90033
  • Joseph W. Towner
    Genetics Division, Department of Pediatrics, University of Southern California, Los Angeles County Medical Center, Los Angeles 90033
  • William Benedict
    Division of Hematology and Oncology, Childrens Hospital of Los Angeles, Los Angeles 90054
  • A. Linn Murphree
    Division of Ophthalmology, Childrens Hospital of Los Angeles, Los Angeles 90054
  • Jorge J. Yunis
    Medical Genetics Division, Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455

抄録

<jats:p>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.</jats:p>

収録刊行物

  • Science

    Science 208 (4447), 1042-1044, 1980-05-30

    American Association for the Advancement of Science (AAAS)

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