Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia

被引：10

作者：

Colombo, R

Carobene, A

机构：

[1] Univ Cattolica Sacro Cuore, Dept Psychol, Human Biol & Genet Res Unit, I-20133 Milan, Italy

[2] Ist Sci San Raffaele, Clin Chem Lab, I-20132 Milan, Italy

来源：

HUMAN GENETICS | 2000年 / 106卷 / 04期

关键词：

D O I：

10.1007/s004390000261

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of un intronic GAA repeat. Using linkage disequilibrium analysis based on haplotype data of seven polymorphic markers close to the frataxin gene, the age of FRDA founding mutational event(s) is estimated to be at least 682+/-203 generations (95% confidence interval: 564-80 l g), a dating which is consistent with little or no negative selection and provides further evidence for an ancient spread of a pro-mutation (at-risk alleles) in western Europe.

引用

页码：455 / 458

页数：4

共 24 条

[1] MEASURING THE STRENGTH OF ASSOCIATIONS BETWEEN HLA ANTIGENS AND DISEASES [J].

BENGTSSON, BO ;

THOMSON, G .

TISSUE ANTIGENS, 1981, 18 (05) :356-363

[2] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].

Campuzano, V ;

Montermini, L ;

Molto, MD ;

Pianese, L ;

Cossee, M ;

Cavalcanti, F ;

Monros, E ;

Rodius, F ;

Duclos, F ;

Monticelli, A ;

Zara, F ;

Canizares, J ;

Koutnikova, H ;

Bidichandani, SI ;

Gellera, C ;

Brice, A ;

Trouillas, P ;

DeMichele, G ;

Filla, A ;

DeFrutos, R ;

Palau, F ;

Patel, PI ;

DiDonato, S ;

Mandel, JL ;

Cocozza, S ;

Koenig, M ;

Pandolfo, M .

SCIENCE, 1996, 271 (5254) :1423-1427

[3] MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9 [J].

CHAMBERLAIN, S ;

SHAW, J ;

ROWLAND, A ;

WALLIS, J ;

SOUTH, S ;

NAKAMURA, Y ;

VONGABAIN, A ;

FARRALL, M ;

WILLIAMSON, R .

NATURE, 1988, 334 (6179) :248-250

[4] Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data [J].

Colombo, R .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :692-697

[5] 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

[6] A physical map of 30,000 human genes [J].

Deloukas, P ;

Schuler, GD ;

Gyapay, G ;

Beasley, EM ;

Soderlund, C ;

Rodriguez-Tomé, P ;

Hui, L ;

Matise, TC ;

McKusick, KB ;

Beckmann, JS ;

Bentolila, S ;

Bihoreau, MT ;

Birren, BB ;

Browne, J ;

Butler, A ;

Castle, AB ;

Chiannilkulchai, N ;

Clee, C ;

Day, PJR ;

Dehejia, A ;

Dibling, T ;

Drouot, N ;

Duprat, S ;

Fizames, C ;

Fox, S ;

Gelling, S ;

Green, L ;

Harrison, P ;

Hocking, R ;

Holloway, E ;

Hunt, S ;

Keil, S ;

Lijnzaad, P ;

Louis-Dit-Sully, C ;

Ma, J ;

Mendis, A ;

Miller, J ;

Morissette, J ;

Muselet, D ;

Nusbaum, HC ;

Peck, A ;

Rozen, S ;

Simon, D ;

Slonim, DK ;

Staples, R ;

Stein, LD ;

Stewart, EA ;

Suchard, MA ;

Thangarajah, T ;

Vega-Czarny, N .

SCIENCE, 1998, 282 (5389) :744-746

[7] 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

[8] ADDITIONAL POLYMORPHISMS AT MARKER LOCI D9S5 AND D9S15 GENERATE EXTENDED HAPLOTYPES IN LINKAGE DISEQUILIBRIUM WITH FRIEDREICH ATAXIA [J].

FUJITA, R ;

HANAUER, A ;

SIRUGO, G ;

HEILIG, R ;

MANDEL, JL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (05) :1796-1800

[9] Estimating the age of mutant disease alleles based on linkage disequilibrium [J].

Guo, SW ;

Xiong, MM .

HUMAN HEREDITY, 1997, 47 (06) :315-337

[10] Genetic traces of ancient demography [J].

Harpending, HC ;

Batzer, MA ;

Gurven, M ;

Jorde, LB ;

Rogers, AR ;

Sherry, ST .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (04) :1961-1967

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