title: A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region.
abstract: We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114. The physical map includes five genes and seven anonymous markers. The maximum distance between ABL and D9S114 is 5.4 Mb. The TSC1 critical region, between D9S149 and D9S114, has a maximum distance of 2.7 Mb. The ratio of genetic and physical distance in the region is 1 cM:600 kb. We also used Southern blot analysis and a radiation hybrid cell line, E6B, to exclude 3 genes--PBX3A, RXR alpha, and TAN1--from the AK1 to D9S114 interval. This excludes them as disease genes for tuberous sclerosis.
authors.affiliation: Division of Experimental Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
authors.forename: E P
authors.initials: EP
authors.lastname: Henske
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D015183:Restriction Mapping; D014402:Tuberous Sclerosis / Q000235:genetics*