X chromosome linkage studies in familial Rett syndrome

Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be ass...

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Bibliographic Details
Published in:Human genetics 1993, Vol.90 (5), p.551-555
Main Authors: CURTIS, A. R. J, HEADLAND, S, CLARKE, A. J, SHOMI BHATTACHARYA, LINDSAY, S, THOMAS, N. S. T, BOYE, E, SMARAGDA KAMAKARI, ROUSTAN, P, ANVRET, M, WAHLSTROM, J, MCCARTHY, G
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA, Satellite - analysis
Family Health
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
linkage analysis
man
Medical sciences
Neurology
Pedigree
Polymorphism, Restriction Fragment Length
Rett syndrome
Rett Syndrome - genetics
Telomere
X Chromosome
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Summary:Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00217457