Report of a critical recombination further narrowing the TSC1 region

Kit Sing Au, Jill Murrell, Alan Buckler, Susan H. Blanton, Hope Northrup

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeric end of the critical region, which contains three genes and three to four additional exons for which the associated genes have not been delineated. This information serves to further the search for the TSC1 gene.

Original languageEnglish (US)
Pages (from-to)559-561
Number of pages3
JournalJournal of medical genetics
Issue number7
StatePublished - 1996
Externally publishedYes


  • Chromosome 9q
  • Polymorphism
  • TSC1
  • Tuberous sclerosis complex (TSC)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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