Literature DB >> 2563350

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

R Fujita1, Y Agid, P Trouillas, A Seck, C Tommasi-Davenas, A J Driesel, K Olek, K H Grzeschik, Y Nakamura, J L Mandel, A Hanauer.   

Abstract

A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia (FA). Linkage with D9S15, previously established by S. Chamberlain et al. (1988, Nature London 334:248-249) was confirmed in our sample (z(theta) = 6.82 at theta = 0.02) while INFB (interferon-beta gene) shows looser linkage. An additional marker, D9S5, was also shown to be closely linked to FA (z(theta) = 5.77 at theta = 0.00).

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Year:  1989        PMID： 2563350     DOI： 10.1016/0888-7543(89)90323-6

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  24 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.  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.

Authors:  E Raimondi; P Bernasconi; D Moralli; R Fujita; G Uziel; S Di Donato; L De Carli; M Pandolfo
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

Review 3.  Friedreich ataxia: an overview.

Authors:  M B Delatycki; R Williamson; S M Forrest
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

4.  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

5.  Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus.

Authors:  E Raimondi; A Antonelli; A J Driesel; M Pandolfo
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

Review 6.  Therapeutic strategies in Friedreich's ataxia.

Authors:  Timothy E Richardson; Heather N Kelly; Amanda E Yu; James W Simpkins
Journal:  Brain Res       Date:  2013-04-13       Impact factor: 3.252

7.  A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Authors:  P Smeyers; E Monrós; J Vílchez; J Lopez-Arlandis; F Prieto; F Palau
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

8.  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

9.  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

10.  The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

Authors:  A Hanauer; M Chery; R Fujita; A J Driesel; S Gilgenkrantz; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025
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