Linkage studies in Israeli families with tuberous sclerosis
- and others
Tuberous sclerosis complex (TSC) is a clinically distinctive autosomal dominant disorder with a population frequency of 1 in 10,000. It affects numerous body systems including skin, brain and kidney, but the etiology is unknown. Linkage studies have indicated genetic heterogeneity. Although about 2/3 of the TSC families in the U.S.A. are linked to markers on chromosome 16p, most TSC families in England are linked to 9q. Therefore, we studied 8 Israeli families with TSC: three showed evidence of linkage to chromosome 16 and two to chromosome 9. In the remaining 3 small families, we were unable to determine linkage due to lack of recombination in both loci. No phenotype/genotype correlation was found, and there was no ethnic predilaction. It seems that in the Israeli Jewish population, TSC is more frequently linked to chromosome 16q.
- OSTI ID:
- 134090
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0826
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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