Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14

Christopher D. Mitchell, John Kenneth Cowell

Research output: Contribution to journalArticle

9 Scopus citations


Somatic cell hybrids have been created between transformed mouse 3T3 cells and fibroblasts from a retino-blatoma patient with normal red-cell esterase-D (ESD) levels and a constitutional deletion of chromosome region 13q14-q31. In one subclone, which has retained the deletion chromosome but not the homologous normal copy, we have demonstrated the presence of the human ESD gene sequence. The breakpoint in this patient therefore must have occurred between the ESD gene and the retinoblastoma (Rb) predisposition locus. We have also been able to demonstrate that the ESD gene lies proximally to be the Rb gene in region 13q14. The recently isolated 4.7R cDNA gene sequence was absent from the deletion-containing hybrid, a finding consistent with the hypothesis that this sequence represents the Rb gene itself.

Original languageEnglish (US)
Pages (from-to)57-60
Number of pages4
JournalHuman Genetics
Issue number1
Publication statusPublished - Dec 1 1988
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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