Literature DB >> 1463017

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

S Belal1, K Panayides, G Sirugo, C Ben Hamida, P Ioannou, F Hentati, J Beckmann, M Koenig, J L Mandel, M Ben Hamida.   

Abstract

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.

Entities:  

Mesh：

Year:  1992        PMID： 1463017      PMCID： PMC1682916     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  15 in total

1.  Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

Authors:  G Sirugo; B Keats; R Fujita; F Duclos; K Purohit; M Koenig; J L Mandel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

2.  Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.

Authors:  M Pandolfo; G Sirugo; A Antonelli; L Weitnauer; L Ferretti; M Leone; I Dones; A Cerino; R Fujita; A Hanauer
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

3.  Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

Authors:  R Fujita; Y Agid; P Trouillas; A Seck; C Tommasi-Davenas; A J Driesel; K Olek; K H Grzeschik; Y Nakamura; J L Mandel; A Hanauer
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

4.  Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors:  I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

5.  Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia.

Authors:  J Wallis; R Williamson; S Chamberlain
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

6.  Mapping of mutation causing Friedreich's ataxia to human chromosome 9.

Authors:  S Chamberlain; J Shaw; A Rowland; J Wallis; S South; Y Nakamura; A von Gabain; M Farrall; R Williamson
Journal:  Nature       Date:  1988-07-21       Impact factor: 49.962

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

Authors:  R Fujita; G Sirugo; F Duclos; H Abderrahim; D Le Paslier; D Cohen; B H Brownstein; D Schlessinger; J L Mandel; M Koenig
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

8.  Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

Authors:  S Chamberlain; J Shaw; J Wallis; A Rowland; L Chow; M Farrall; B Keats; A Richter; M Roy; S Melancon
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

9.  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.

Authors:  R Fujita; A Hanauer; A Vincent; J L Mandel; M Koenig
Journal:  Genomics       Date:  1991-08       Impact factor: 5.736

10.  Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.

Authors:  R Fujita; A Hanauer; G Sirugo; R Heilig; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205
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  2 in total

Review 1.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

2.  Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

Authors:  F Rodius; F Duclos; K Wrogemann; D Le Paslier; P Ougen; A Billault; S Belal; C Musenger; A Brice; A Dürr
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025
  2 in total

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