Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Dec;29(12):861–866. doi: 10.1136/jmg.29.12.861

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

J R Sampson 1, L A Janssen 1, L A Sandkuijl 1
PMCID: PMC1016202  PMID: 1479600

Abstract

Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the family members has been reassessed using uniform diagnostic criteria and genotypic data extensively checked before analysis under alternative models of locus heterogeneity. One tuberous sclerosis determining locus, accounting for approximately 50% of the families studied, has been found to map in the region of D9S10 on 9q34 but no evidence has been found to support the existence of major loci on 11q or 12q. A locus, or loci, elsewhere in the genome is likely to account for tuberous sclerosis in most non-chromosome 9 linked families.

Full text

PDF
861

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J. P., Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. doi: 10.1016/0092-8674(92)90154-5. [DOI] [PubMed] [Google Scholar]
  2. Chance P. F., Bird T. D., O'Connell P., Lipe H., Lalouel J. M., Leppert M. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet. 1990 Dec;47(6):915–925. [PMC free article] [PubMed] [Google Scholar]
  3. Connor J. M., Pirrit L. A., Yates J. R., Fryer A. E., Ferguson-Smith M. A. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J Med Genet. 1987 Sep;24(9):544–546. doi: 10.1136/jmg.24.9.544. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Daish P., Hardman M. J., Lamont M. A. Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? J Med Genet. 1989 Jan;26(1):51–54. doi: 10.1136/jmg.26.1.51. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Fahsold R., Rott H. D., Claussen U., Schmalenberger B. Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3). Clin Genet. 1991 Oct;40(4):326–328. doi: 10.1111/j.1399-0004.1991.tb03103.x. [DOI] [PubMed] [Google Scholar]
  6. Fahsold R., Rott H. D., Lorenz P. A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum Genet. 1991 Nov;88(1):85–90. doi: 10.1007/BF00204934. [DOI] [PubMed] [Google Scholar]
  7. Fryer A. E., Chalmers A., Connor J. M., Fraser I., Povey S., Yates A. D., Yates J. R., Osborne J. P. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987 Mar 21;1(8534):659–661. doi: 10.1016/s0140-6736(87)90416-8. [DOI] [PubMed] [Google Scholar]
  8. Haines J. L., Amos J., Attwood J., Bech-Hansen N. T., Burley M., Conneally P. M., Connor J. M., Fahsold R., Flodman P., Fryer A. Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci. 1991;615:256–264. doi: 10.1111/j.1749-6632.1991.tb37767.x. [DOI] [PubMed] [Google Scholar]
  9. Haines J. L., Short M. P., Kwiatkowski D. J., Jewell A., Andermann E., Bejjani B., Yang C. H., Gusella J. F., Amos J. A. Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct;49(4):764–772. [PMC free article] [PubMed] [Google Scholar]
  10. Janssen L. A., Povey S., Attwood J., Sandkuyl L. A., Lindhout D., Flodman P., Smith M., Sampson J. R., Haines J. L., Merkens E. C. A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. Ann N Y Acad Sci. 1991;615:306–315. doi: 10.1111/j.1749-6632.1991.tb37772.x. [DOI] [PubMed] [Google Scholar]
  11. Janssen L. A., Sandkuijl L. A., Sampson J. R., Halley D. J. Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. J Med Genet. 1992 Dec;29(12):867–874. doi: 10.1136/jmg.29.12.867. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Janssen L. A., Sandkuyl L. A., Merkens E. C., Maat-Kievit J. A., Sampson J. R., Fleury P., Hennekam R. C., Grosveld G. C., Lindhout D., Halley D. J. Genetic heterogeneity in tuberous sclerosis. Genomics. 1990 Oct;8(2):237–242. doi: 10.1016/0888-7543(90)90277-2. [DOI] [PubMed] [Google Scholar]
  13. Julier C., Nakamura Y., Lathrop M., O'Connell P., Leppert M., Litt M., Mohandas T., Lalouel J. M., White R. A detailed genetic map of the long arm of chromosome 11. Genomics. 1990 Jul;7(3):335–345. doi: 10.1016/0888-7543(90)90167-s. [DOI] [PubMed] [Google Scholar]
  14. Kandt R. S., Pericak-Vance M. A., Hung W. Y., Gardner R. J., Nellist M., Phillips K., Warner K., Speer M. C., Crossen P. E., Laing N. G. Absence of linkage of ABO blood group locus to familial tuberous sclerosis. Exp Neurol. 1989 Jun;104(3):223–228. doi: 10.1016/0014-4886(89)90033-2. [DOI] [PubMed] [Google Scholar]
  15. Kwiatkowski D. J., Henske E. P., Weimer K., Ozelius L., Gusella J. F., Haines J. Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb;12(2):229–240. doi: 10.1016/0888-7543(92)90370-8. [DOI] [PubMed] [Google Scholar]
  16. Lange K., Boehnke M. Extensions to pedigree analysis. V. Optimal calculation of Mendelian likelihoods. Hum Hered. 1983;33(5):291–301. doi: 10.1159/000153393. [DOI] [PubMed] [Google Scholar]
  17. Lathrop M., Nakamura Y., O'Connell P., Leppert M., Woodward S., Lalouel J. M., White R. A mapped set of genetic markers for human chromosome 9. Genomics. 1988 Nov;3(4):361–366. doi: 10.1016/0888-7543(88)90128-0. [DOI] [PubMed] [Google Scholar]
  18. O'Connell P., Lathrop G. M., Law M., Leppert M., Nakamura Y., Hoff M., Kumlin E., Thomas W., Elsner T., Ballard L. A primary genetic linkage map for human chromosome 12. Genomics. 1987 Sep;1(1):93–102. doi: 10.1016/0888-7543(87)90110-8. [DOI] [PubMed] [Google Scholar]
  19. Ott J. Linkage analysis and family classification under heterogeneity. Ann Hum Genet. 1983 Oct;47(Pt 4):311–320. doi: 10.1111/j.1469-1809.1983.tb01001.x. [DOI] [PubMed] [Google Scholar]
  20. Peters D. J., Sandkuijl L. A. Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol. 1992;97:128–139. doi: 10.1159/000421651. [DOI] [PubMed] [Google Scholar]
  21. Povey S., Attwood J., Janssen L. A., Burley M., Smith M., Flodman P., Morton N. E., Edwards J. H., Sampson J. R., Yates J. R. An attempt to map two genes for tuberous sclerosis using novel two-point methods. Ann N Y Acad Sci. 1991;615:298–305. doi: 10.1111/j.1749-6632.1991.tb37771.x. [DOI] [PubMed] [Google Scholar]
  22. Rommens J. M., Iannuzzi M. C., Kerem B., Drumm M. L., Melmer G., Dean M., Rozmahel R., Cole J. L., Kennedy D., Hidaka N. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. doi: 10.1126/science.2772657. [DOI] [PubMed] [Google Scholar]
  23. Sanal O., Wei S., Foroud T., Malhotra U., Concannon P., Charmley P., Salser W., Lange K., Gatti R. A. Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am J Hum Genet. 1990 Nov;47(5):860–866. [PMC free article] [PubMed] [Google Scholar]
  24. Smith M., Smalley S., Cantor R., Pandolfo M., Gomez M. I., Baumann R., Flodman P., Yoshiyama K., Nakamura Y., Julier C. Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics. 1990 Jan;6(1):105–114. doi: 10.1016/0888-7543(90)90454-3. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES