title: Report of a critical recombination further narrowing the TSC1 region.
abstract: A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeric end of the critical region, which contains three genes and three to four additional exons for which the associated genes have not been delineated. This information serves to further the search for the TSC1 gene.
authors.affiliation: Department of Pediatrics, University of Texas Medical School Houston 77030, USA.
authors.forename: K S
authors.initials: KS
authors.lastname: Au
authors.forename: J
authors.initials: J
authors.lastname: Murrell
authors.forename: A
authors.initials: A
authors.lastname: Buckler
authors.forename: S H
authors.initials: SH
authors.lastname: Blanton
authors.forename: H
authors.initials: H
authors.lastname: Northrup
mesh_terms: D015139:Blotting, Southern; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers