Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!

R. S. Kandt, Margaret A Pericak-Vance, W. Y. Hung, R. J M Gardner, P. E. Crossen, M. D. Nellist, M. C. Speer, A. D. Roses

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Published reports show linkage of tuberous sclerosis (TSC) to either chromosome 9 in some families or chromosome 11 in other families. We studied 243 individuals (82 with TSC) from 16 multigenerational TSC families. The diagnosis of TSC conformed to the criteria of Gomez. Penetrance was estimated at 0.90. DNA markers were analyzed using Southern blotting, probe hybridization, autoradiography, and genetic linkage analysis. Two-point lod scores for TSC were calculated for 43 genetic markers distributed over 11 chromosomes. Tests for homogeneity rejected the null hypothesis of homogeneity. Linkage to TSC was excluded (z ≤ 2, Θ ≥ 0.05) for 23 of these markers including 9q34 and 11q markers. One family gave z[Θ(max)] = 1.8, Θ(max) = 0.001 with ABO (on 9q34), and two other families attained lod scores greater than 1 for 9q34-region markers. The lod score for TSC versus chromosome 14 marker pAW101 (D14S1) was z[Θ(max)] = 1.98, Θ(max) = 0.15. A single large family has overall negative lod scores for markers localized to both chromosome 9 and chromosome 11. These data confirm genetic heterogeneity in TSC and suggest linkage of some families to 9q34. Furthermore, the data suggest that 14q may be an interesting area.

Original languageEnglish
Pages (from-to)284-297
Number of pages14
JournalAnnals of the New York Academy of Sciences
Volume615
StatePublished - Sep 4 1991
Externally publishedYes

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Chromosomes, Human, Pair 9
Tuberous Sclerosis
Chromosomes
Lod Score
Chromosomes, Human, Pair 11
Genetic Markers
Chromosomes, Human, Pair 14
Genetic Linkage
Genetic Heterogeneity
Linkage
Chromosome
Penetrance
Southern Blotting
Autoradiography
DNA

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Kandt, R. S., Pericak-Vance, M. A., Hung, W. Y., Gardner, R. J. M., Crossen, P. E., Nellist, M. D., ... Roses, A. D. (1991). Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! Annals of the New York Academy of Sciences, 615, 284-297.

Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! / Kandt, R. S.; Pericak-Vance, Margaret A; Hung, W. Y.; Gardner, R. J M; Crossen, P. E.; Nellist, M. D.; Speer, M. C.; Roses, A. D.

In: Annals of the New York Academy of Sciences, Vol. 615, 04.09.1991, p. 284-297.

Research output: Contribution to journalArticle

Kandt, RS, Pericak-Vance, MA, Hung, WY, Gardner, RJM, Crossen, PE, Nellist, MD, Speer, MC & Roses, AD 1991, 'Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!', Annals of the New York Academy of Sciences, vol. 615, pp. 284-297.
Kandt RS, Pericak-Vance MA, Hung WY, Gardner RJM, Crossen PE, Nellist MD et al. Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! Annals of the New York Academy of Sciences. 1991 Sep 4;615:284-297.
Kandt, R. S. ; Pericak-Vance, Margaret A ; Hung, W. Y. ; Gardner, R. J M ; Crossen, P. E. ; Nellist, M. D. ; Speer, M. C. ; Roses, A. D. / Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!. In: Annals of the New York Academy of Sciences. 1991 ; Vol. 615. pp. 284-297.
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