title: Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.
abstract: Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 cM between ABL and ABO.
authors.affiliation: MGC Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Janssen
authors.forename: J
authors.initials: J
authors.lastname: Sampson
authors.forename: M
authors.initials: M
authors.lastname: van der Est
authors.forename: W
authors.initials: W
authors.lastname: Deelen
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: I
authors.initials: I
authors.lastname: Daniels
authors.forename: A
authors.initials: A
authors.lastname: Hesseling
authors.forename: P
authors.initials: P
authors.lastname: Brook-Carter
authors.forename: M
authors.initials: M
authors.lastname: Nellist
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D014402:Tuberous Sclerosis / Q000235:genetics*