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| A 3RD GENE LOCUS FOR TUBEROUS SCLEROSIS IS CLOSELY LINKED TO THE PHENYLALANINE-HYDROXYLASE GENE LOCUS |
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| Author(s): FAHSOLD R, ROTT HD, LORENZ P |
| Source: HUMAN GENETICS Volume: 88 Issue: 1 Pages: 85-90 Published: NOV 1991 |
| Times Cited: 44 References: 38 |
| Abstract: Following the observation of a patient suffering from tuberous sclerosis (TSC) with a de novo reciprocal translocation t (3,12) (p26.3; q23.3), we have undertaken a linkage study in 15 TSC families using polymorphic DNA markers neighbouring the chromosome breakpoints. Significant lod scores have been obtained for markers D12S7 (z(max) = 2.34, theta = 0.14) and PAH (phenylalanine hydroxylase (z(max) = 4.34, theta = 0.0). In multipoint linkage analysis, the peak lod score was 4.56 at the PAH gene locus. These data suggest the existence of a third gene locus for TSC (TSC3) on chromosome 12q22-24.1. The regions that have been found to be linked to TSC in different families map to the positions of three enzymes, phenylalanine hydroxylase (12q22-24), tyrosinase (11q14-22), and dopamine-beta-hydroxylase (9q34), all of which are involved in the conversion of phenylalanine to catecholamine neurotransmitters or melanin. Disorders of these biochemical pathways might be involved in the pathogenesis of TSC. |
| Document Type: Article |
| Language: English |
| Reprint Address: FAHSOLD, R (reprint author), UNIV ERLANGEN NURNBERG, INST HUMAN GENET, SCHWABACHANLAGE 10, W-8520 ERLANGEN, GERMANY |
Addresses:
1. MED ACAD CARL GUSTAV CARUS, INST KLIN GENET, O-8019 DRESDEN, GERMANY |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity |
| IDS Number: GR278 |
| ISSN: 0340-6717 |
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