Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11:: evidence for further locus heterogeneity

被引：18

作者：

Christodoulou, K

Deymeer, F

Serdaroglu, P

Özdemir, C

Poda, M

Georgiou, DM

Ioannou, P

Tsingis, M

Zamba, E

Middleton, LT

机构：

[1] Cyprus Inst Neurol & Genet, CY-1683 Nicosia, Cyprus

[2] Istanbul Univ, Dept Neurol, Istanbul, Turkey

[3] Istanbul Univ, DETAE, Dept Genet, Istanbul, Turkey

[4] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[5] Glaxo Smith Klin R&D, Clin Discovery Genet, London, England

来源：

NEUROGENETICS | 2001年 / 3卷 / 03期

关键词：

Friedreich's ataxia; FRDA2; chromosome; 9p23-p11; genetic heterogeneity;

D O I：

10.1007/s100480100112

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.

引用

收藏

页码：127 / 132

页数：6

相关论文

共 33 条

[11] Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations [J].

Cossee, M ;

Schmitt, M ;

Campuzano, V ;

Reutenauer, L ;

Moutou, C ;

Mandel, JL ;

Koenig, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7452-7457

[12] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[13] Clinical and genetic abnormalities in patients with Friedreich's ataxia [J].

Durr, A ;

Cossee, M ;

Agid, Y ;

Campuzano, V ;

Mignard, C ;

Penet, C ;

Mandel, JL ;

Brice, A ;

Koenig, M .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (16) :1169-1175

[14]

Filla A, 1996, AM J HUM GENET, V59, P554

[15] The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene [J].

Forrest, SM ;

Knight, M ;

Delatycki, MB ;

Paris, D ;

Williamson, R ;

King, J ;

Yeung, L ;

Nassif, N ;

Nicholson, GA .

NEUROGENETICS, 1998, 1 (04) :253-257

[16] CONFIRMATION OF LINKAGE OF FRIEDREICH ATAXIA TO CHROMOSOME-9 AND IDENTIFICATION OF A NEW CLOSELY LINKED MARKER [J].

FUJITA, R ;

AGID, Y ;

TROUILLAS, P ;

SECK, A ;

TOMMASIDAVENAS, C ;

DRIESEL, AJ ;

OLEK, K ;

GRZESCHIK, KH ;

NAKAMURA, Y ;

MANDEL, JL ;

HANAUER, A .

GENOMICS, 1989, 4 (01) :110-111

[17]

GEOFFROY G, 1976, Canadian Journal of Neurological Sciences, V3, P279

[18] Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia [J].

Geschwind, DH ;

Perlman, S ;

Grody, WW ;

Telatar, M ;

Montermini, L ;

Pandolfo, M ;

Gatti, RA .

NEUROLOGY, 1997, 49 (04) :1004-1009

[19] FRIEDREICH ATAXIA - A CLINICAL AND GENETIC-STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC-CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL-FEATURES [J].

HARDING, AE .

BRAIN, 1981, 104 (SEP) :589-620

[20] Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress [J].

Hentze, MW ;

Kuhn, LC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (16) :8175-8182

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