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Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!
R S Kandt1, M A Pericak-Vance, W Y Hung
1Division of Neurology in Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
Annals of the New York Academy of Sciences
|January 1, 1991
Summary
Genetic heterogeneity in tuberous sclerosis (TSC) is confirmed, with some families showing linkage to chromosome 9q34. This study suggests chromosome 14q may also be involved in TSC.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- Tuberous sclerosis (TSC) is a genetic disorder with reported linkage to chromosomes 9 and 11.
- Previous studies indicated potential genetic loci for TSC, but heterogeneity was suspected.
Purpose of the Study:
- To investigate the genetic basis of tuberous sclerosis (TSC) in multigenerational families.
- To identify specific chromosomal regions linked to TSC and confirm genetic heterogeneity.
Main Methods:
- Studied 243 individuals from 16 multigenerational TSC families using established diagnostic criteria.
- Employed DNA marker analysis, including Southern blotting and genetic linkage analysis.
- Calculated two-point lod scores for 43 genetic markers across 11 chromosomes.
Main Results:
- Homogeneity tests rejected a single locus for TSC, confirming genetic heterogeneity.
- Linkage to TSC was excluded for 23 markers, including those on chromosomes 9q34 and 11q.
- Evidence suggests linkage of some TSC families to 9q34 (ABO marker) and potentially to 14q (marker pAW101).
Conclusions:
- The study confirms genetic heterogeneity in tuberous sclerosis (TSC).
- Findings suggest that TSC may be linked to chromosome 9q34 in some families.
- Chromosome 14q is proposed as a potential region for further investigation in TSC genetics.