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PMID: 1353054 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.

Human genetics ·Vol. 89 ·No. 5 ·1992-07-00 ·Pages 531-8

Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M

Abstract

Friedreich ataxia (FA) is a severe autosomal recessive neurodegenerative disease. The defective gene has been previously assigned to chromosome 9q13-q21 by demonstration of tight linkage to the two independent loci D9S15 and D9S5. Linkage data indicate that FRDA is at less than 1 cM from both markers. Previous physical mapping has shown that probes defining D9S15 (MCT112) and D9S5 (26P) are less than 260 kb apart and are surrounded by at least six CpG clusters within 450 kb, which might indicate the presence of "candidate" genes for FA. We isolated and characterized a 530 kb YAC (yeast artificial chromosome) contig that contains five of the CpG clusters. The YACs were used to search for new polymorphic markers needed to map FRDA precisely with respect to the cloned segment. In particular, we found a (CA)n microsatellite polymorphism, GS4, that detects 13 alleles with a PIC value of 0.83 and allows the definition of haplotypes extending over 310 kb when used in combination with polymorphic markers at D9S5 and D9S15.

MeSH Terms
Base Sequence Chromosome Aberrations Chromosomes, Fungal Chromosomes, Human, Pair 9 Cloning, Molecular Cosmids Cytosine Nucleotides/analysis DNA/analysis DNA, Satellite/genetics Electrophoresis, Gel, Pulsed-Field Friedreich Ataxia/genetics Guanine Nucleotides/analysis Humans Molecular Sequence Data Nucleic Acid Hybridization Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Repetitive Sequences, Nucleic Acid Restriction Mapping
Chemicals
Cytosine Nucleotides DNA, Satellite Guanine Nucleotides DNA
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Fujita R
LGME-CNRS, U.184-INSERM, Institut de Chimie Biologique, Faculté de Médecine, Université Louis Pasteur, Strasbourg, France.
Sirugo G
Duclos F
Abderrahim H
Le Paslier D
Cohen D
Brownstein B H
Schlessinger D
Mandel J L
Koenig M
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00219179
Published
1992-07-00
Pages
531-8
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00219179 View journal details
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