Archives of Dermatological Research

, Volume 285, Issue 3, pp 140–143 | Cite as

Unsuccessful attempt to detect genetic mutation in tuberous sclerosis utilizing the polymerase chain reaction

  • R. Watanabe
  • M. Ebihara
  • F. Otsuka
  • K. Onodera
  • Y. Ishibashi
Original Contributions


Although tuberous sclerosis is supposed to be a phacomatosis inherited as an autosomal dominant trait, many cases develop without any affected parents or grandparents. In recent years, many vigorous investigations have been concentrated on finding the mutant gene, and possible candidate genes have been mapped on 9q34 and other chomosomes. In order to find a way of diagnosing asymptomatic carriers or patients, we tried to detect restriction fragment length polymorphisms (RFLPs) using the technique of polymerase chain reaction (PCR). We used a probe, MCOA12, which is located on 9q34 and has been known to show RFLPs in Caucasian tuberous sclerosis patients. However, we could not find a correlation between the phenotype and RFLP pattern in seven of eight families.

Key words

Tuberous sclerosis Restriction fragment length polymorphisms Polymerase chain reaction Gene mutation 


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • R. Watanabe
    • 1
  • M. Ebihara
    • 2
  • F. Otsuka
    • 1
  • K. Onodera
    • 2
  • Y. Ishibashi
    • 3
  1. 1.Department of DermatologyTokyo University Branch HospitalTokyoJapan
  2. 2.Department of Agricultural ChemistryThe University of TokyoTokyoJapan
  3. 3.Department of Dermatology, Faculty of MedicineTokyo UniversityTokyoJapan

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