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Literature DB >> 2769723

Evidence for genetic heterogeneity in tuberous sclerosis.

J R Sampson¹, J R Yates, L A Pirrit, P Fleury, I Winship, P Beighton, J M Connor.

Abstract

The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1, and MCOA12 from distal 9q, and PBGD, MCT128.1, and 1CJ52.208M from distal 11q). The data as a whole supported a TSC locus on distal 9q, the peak lod score on multipoint analysis being 3.77 at 6 cM proximal to the Abelson oncogene locus (ABL). However, analysis of two point lod scores using the HOMOG programs showed significant evidence for genetic heterogeneity (p = 0.01), linkage to ABL being unlikely in one family. After exclusion of the unlinked family, multipoint analysis gave a peak lod score of 6.1 in the vicinity of ABL. The family unlinked to ABL showed no recombinants with two chromosome 11 probes, but was too small to provide significant evidence for linkage. Genetic heterogeneity in TSC will complicate efforts to clone the causative genes and severely limit the use of linked probes for carrier detection and prenatal diagnosis.

Entities: Disease Gene

Mesh：

Substances：

Year: 1989 PMID： 2769723 PMCID： PMC1015673 DOI： 10.1136/jmg.26.8.511

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

17 in total

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Authors: Hilaire C Lam; Julie Nijmeh; Elizabeth P Henske
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Authors: Martin W Laass; Miriam Spiegel; Anna Jauch; Gabriele Hahn; Edgar Rupprecht; Christian Vogelberg; Oliver Bartsch; Angela Huebner
Journal: Pediatr Nephrol Date: 2004-03-09 Impact factor: 3.714