Linkage studies in Israeli families with tuberous sclerosis

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134090

Ofir, H; Magal, N; Kivity, S ^[1]

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1. 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--
• 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

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CORRELATIONS
DOMINANT MUTATIONS
ETIOLOGY
GENES
GENETIC MAPPING
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
HUMAN CHROMOSOME 9
ISRAEL
PATIENTS
PHENOTYPE