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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.

Original publication

DOI

10.1007/bf00194648

Type

Journal article

Journal

Human genetics

Publication Date

03/1991

Volume

86

Pages

525 - 528

Addresses

Dipartimento di Genetica e Microbiologia, A. Buzzati Traverso, Pavia, Italy.

Keywords

Cells, Cultured, Chromosomes, Human, Pair 9, Humans, Friedreich Ataxia, DNA, DNA Probes, Chromosome Banding, Base Sequence, Linkage Disequilibrium, Molecular Sequence Data, Chromosome Inversion, Genetic Linkage