Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families
✍ Scribed by Bart Janssen; Julian Sampson; Mieke Est; Wout Deelen; Senno Verhoef; Ian Daniels; Arjenne Hesseling; Phillip Brook-Carter; Mark Nellist; Dick Lindhout; Lodewijk Sandkuijl; Dicky Halley
- Book ID
- 104661206
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 336 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
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.