Document Detail

Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
MedLine Citation:
PMID:  1916823     Owner:  NLM     Status:  MEDLINE    
The Friedreich's ataxia locus (FRDA) has recently been mapped to 9q13-q21 by tight linkage to D9S15 and D9S5 loci. The present lack of recombination between these loci precludes further genetic mapping and suggests that the distances involved are in the megabase range. We have established a 1-Mb map around loci D9S15 (defined by probe MCT112) and D9S5 (defined by probe DR47) and found that they are at most 260 apart. Six rare cutting site clusters were found in a 450-kb segment containing both loci. Three clusters were completely unmethylated in two cell lines tested and might correspond to CpG islands flanking transcribed sequences. Cosmid mapping of a 52-kb region around D9S5 and pulse-field gel electrophoresis analysis showed the presence of three other CpG clusters that were partially or completely methylated. Two of them were present in the cosmid clones available and were associated with sequences conserved in other vertebrate species. The CpG islands and conserved sequences presented here can be used to search for genes defective in Friedreich's ataxia.
R Fujita; A Hanauer; A Vincent; J L Mandel; M Koenig
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  10     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1991 Aug 
Date Detail:
Created Date:  1991-11-04     Completed Date:  1991-11-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  915-20     Citation Subset:  IM    
LGME-CNRS, U.184-INSERM, Institut de Chimie Biologique, Faculté de Médecine, Strasbourg, France.
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MeSH Terms
Cell Line
Chromosomes, Human, Pair 9*
DNA / genetics*,  isolation & purification
DNA Probes
Dinucleoside Phosphates / analysis*
Electrophoresis, Agar Gel / methods
Friedreich Ataxia / genetics*
Genetic Markers
Hybrid Cells / cytology
Restriction Mapping
Reg. No./Substance:
0/DNA Probes; 0/Dinucleoside Phosphates; 0/Genetic Markers; 2382-65-2/cytidylyl-3'-5'-guanosine; 9007-49-2/DNA

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