Molecular analysis of tuberous sclerosis complex (TSC1) on chromosome 9q34
- Duke Univ. Medical Center, Durham, NC (United States); and others
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects numerous different organ systems. There are two loci for TSC: one on chromosome 9q34 (TSC1) and another on chromosome 16p13.3 (TSC2). The chromosome 9 TSC1 gene has recently been localized between D9S10 proximally and D9S114 distally in a region spanning approximately 350 kb. Our research efforts are directed towards the isolation of TSC1 gene. Our primary aims are to: (1) construct a P1 and cosmid contig of the region, (2) generate a long-range physical map of the region, and (3) isolate cDNA clones from the region and test them as TSC1 candidate genes. We have started contig assembly of the region through the screening of P1 and cosmid libraries. We have isolated FISH-confirmed cosmids for D9S10 and D9S114. We have also isolated FISH-confirmed clones for D9S10 and adjacent P1 clones covering more than 120 kb of the TSC1 region. At present, we are chromosome-walking from D9S10 and D9S114 markers to complete the contig of the region. At the same time, we are constructing a long-range physical map of the region using pulse-field gel electrophoresis. We have isolated 17 cDNA clones from a fetal brain cDNA library using the D9S10 cosmid as a probe. Currently, we are in the process of analyzing these cDNA clones as TSC1 candidate genes by sequence analysis, Northern and Southern hybridization techniques. We are probing DNA blots from 104 individual TSC sporadic and familial cases with cDNA and genomic clones isolated from the region for possible deletions, duplications and other types of rearrangements. Moreover, we are also analyzing chromosome preparations from TSC sporadic and familial cases using FISH and cDNA and genomic clones as probes for chromosome rearrangements and/or abnormalities.
- OSTI ID:
- 134428
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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