𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus

✍ Scribed by R. Fahsold; H. -D. Rott; P. Lorenz

Publisher
Springer
Year
1991
Tongue
English
Weight
509 KB
Volume
88
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

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 (Zmax = 2.34, theta = 0.14) and PAH (phenylalanine hydroxylase (Zmax = 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.

πŸ“œ SIMILAR VOLUMES

The achondroplasia gene is not linked to
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17
✍ S.-M. Pulst; J. M. Graham; P. Fain; D. Barker; T. Pribyl; J. R. Korenberg πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 322 KB

We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence o

The gene for the Lp(a)-specific glycopro
The gene for the Lp(a)-specific glycoprotein is closely linked to the gene for plasminogen on chromosome 6
✍ Gisela Lindahl; Elisabeth Gersdorf; Han JΓΌrgen Menzel; Christoph Duba; Hartmut C πŸ“‚ Article πŸ“… 1989 πŸ› Springer 🌐 English βš– 403 KB

We have studied the segregation of the Lp(a) glycoprotein phenotypes and of the plasminogen (PLG) polymorphism in three two-generation families. The inheritance of the Lp(a) gene was followed using the Lp(a) glycoprotein size polymorphism and that of the plasminogen gene, using protein and DNA polym