Evidence that the gene for tuberous sclerosis is on chromosome 9

Lancet. 1987 Mar 21;1(8534):659-61. doi: 10.1016/s0140-6736(87)90416-8.


Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylate Kinase / genetics
  • Blood Group Antigens / genetics
  • Child
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 9*
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Polymorphism, Genetic
  • Recombination, Genetic
  • Sex Factors
  • Tuberous Sclerosis / genetics*


  • Blood Group Antigens
  • Adenylate Kinase