Human Genetics

, Volume 76, Issue 3, pp 257–261 | Cite as

Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

  • B. Horsthemke
  • Valerie Greger
  • H. J. Barnert
  • W. Höpping
  • E. Passarge
Original Investigations


DNA samples from 60 unrelated patients with retinoblastoma were screened by Southern blot hybridization using two probes that are closely linked to the retinoblastoma locus within human chromosome band 13q14. Seven of 44 patients with bilateral or multifocal unilateral retinoblastoma and one patient with unifocal unilateral retinoblastoma were found to have a heterozygous deletion for the anonymous DNA sequence H3-8. Three of the eight deletions did not include the esterase D locus and were undetectable by conventional cytogenetic analysis. The findings are compatible with the deletions being the cause of retinoblastoma in these cases and provide a basis for DNA diagnosis in nearly 20% of patients with bilateral and multifocal unilateral retinoblastoma. The H3-8 probe also detects a restriction fragment length polymorphism that is a useful genetic marker in some families.


Southern Blot Restriction Fragment Length Polymorphism Fragment Length Polymorphism Retinoblastoma Cytogenetic Analysis 
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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • B. Horsthemke
    • 1
  • Valerie Greger
    • 1
  • H. J. Barnert
    • 1
  • W. Höpping
    • 2
  • E. Passarge
    • 1
  1. 1.Institut für HumangenetikUniversitätsklinikumEssen 1Federal Republic of Germany
  2. 2.Zentrum für AugenheilkundeUniversitätsklinikumEssen 1Federal Republic of Germany

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