Title
Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9
Date Issued
01 March 1991
Access level
metadata only access
Resource Type
journal article
Author(s)
Raimondi E.
Bernasconi P.
Moralli D.
Uziel G.
Di Donato S.
De Carli L.
Pandolfo M.
Institut de Chimie Biologique
Abstract
The gene for Friedreich's ataxia (FA), an autosomal recessive neurodegenerative disorder, has been recently assigned to the long arm of chromosome 9. Linkage disequilibrium between FA and two diverse chromosome 9 markers, D9S5 and D9S15, has been detected in French, French-Canadian and Italian populations. Here, we report the physical localization of these loci by in situ hybridization of probes 26P and MCT112S identifying the D9S5 and D9S15 loci, respectively. Experiments performed on lymphocytes carrying a chromosome 9 pericentric inversion have allowed us to assign both the loci to band 9q21. Furthermore, in situ hybridization data and partial sequencing of the probe MCT112S indicate the presence of alphoid satellite DNA within this region. This suggests that MCT112S is more proximal to the centromere than 26P. © 1991, Springer-Verlag. All rights reserved.
Start page
525
End page
528
Volume
86
Issue
5
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-0025898564
PubMed ID
Source
Human Genetics
ISSN of the container
03406717
Sources of information:
Directorio de Producción Científica
Scopus