Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

被引:169
作者
Takano, H
Cancel, G
Ikeuchi, T
Lorenzetti, D
Mawad, R
Stevanin, G
Didierjean, O
Durr, A
Oyake, M
Shimohata, T
Sasaki, R
Koide, R
Igarashi, S
Hayashi, S
Takiyama, Y
Nishizawa, M
Tanaka, H
Zoghbi, H
Brice, A
Tsuji, S
机构
[1] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 9518585, Japan
[2] Niigata Univ, Brain Res Inst, Dept Pathol, Niigata 9518585, Japan
[3] Hop La Pitie Salpetriere, INSERM U289, Paris, France
[4] Howard Hughes Med Inst, Dept Pediat, Houston, TX 77030 USA
[5] Howard Hughes Med Inst, Dept Neurol, Houston, TX 77030 USA
[6] Howard Hughes Med Inst, Dept Mol & Human Genet, Houston, TX 77030 USA
[7] Baylor Coll Med, Houston, TX 77030 USA
[8] Jichi Med Sch, Dept Neurol, Tochigi, Japan
关键词
D O I
10.1086/302067
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxias (SCAs)-SCA types 1, 2, 3 (Machado-Joseph disease), 6, and dentatorubral-pallidoluysian atrophy (DRPLA)-we investigated the relative prevalences of these diseases in 202 Japanese and 177 Caucasian families and distributions of the number of CAG repeats of ANs at these disease loci in normal individuals in each population. The relative prevalences of SCA1 and SCA2 were significantly higher in Caucasian pedigrees (15% and 14%, respectively) than in Japanese pedigrees (3% and 5%, respectively), corresponding to the observation that the frequencies of large ANs of SCA1 (alleles >30 repeats) and of SCA2 (alleles >22 repeats) were significantly higher in Caucasians than in Japanese. The relative prevalences of MJD/SCA3, SCA6, and DRPLA were significantly higher in Japanese pedigrees (43%, 11%, and 20%, respectively) than in Caucasian pedigrees (30%, 5%, and 0%, respectively), corresponding to the observation that the frequencies of large ANs of MJD/SCAS (>27 repeats), SCA6 (>13 repeats), and DRPLA (>17 repeats) were significantly higher in Japanese than in Caucasians. The close correlations of the relative prevalences of the dominant SCAs with the distributions of large ANs strongly support the assumption that large ANs contribute to generation of expanded alleles (AEs) and the relative prevalences of the dominant SCAs.
引用
收藏
页码:1060 / 1066
页数:7
相关论文
共 44 条
[1]   DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY AND HAW-RIVER-SYNDROME [J].
BURKE, AR ;
IKEUCHI, T ;
KOIDE, R ;
TSUJI, S ;
YAMADA, M ;
PERICAKVANCE, MA ;
VANCE, JM .
LANCET, 1994, 344 (8938) :1711-1712
[2]   Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families [J].
Cancel, G ;
Durr, A ;
Didierjean, O ;
Imbert, G ;
Burk, K ;
Lezin, A ;
Belal, S ;
Benomar, A ;
AbadaBendib, M ;
Vial, C ;
Guimaraes, J ;
Chneiweiss, H ;
Stevanin, G ;
Yvert, G ;
Abbas, N ;
Saudou, F ;
Lebre, AS ;
Yahyaoui, M ;
Hentati, F ;
Vernant, JC ;
Klockgether, T ;
Mandel, JL ;
Agid, Y ;
Brice, A .
HUMAN MOLECULAR GENETICS, 1997, 6 (05) :709-715
[3]   Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses [J].
Chong, SS ;
Almqvist, E ;
Telenius, H ;
LaTray, L ;
Nichol, K ;
BourdelatParks, B ;
Goldberg, YP ;
Haddad, BR ;
Richards, F ;
Sillence, D ;
Greenberg, CR ;
Ives, E ;
VandenEngh, G ;
Hughes, MR ;
Hayden, MR .
HUMAN MOLECULAR GENETICS, 1997, 6 (02) :301-309
[4]   Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].
David, G ;
Abbas, N ;
Stevanin, G ;
Durr, A ;
Yvert, G ;
Cancel, G ;
Weber, C ;
Imbert, G ;
Saudou, F ;
Antoniou, E ;
Drabkin, H ;
Gemmill, R ;
Giunti, P ;
Benomar, A ;
Wood, N ;
Ruberg, M ;
Agid, Y ;
Mandel, JL ;
Brice, A .
NATURE GENETICS, 1997, 17 (01) :65-70
[5]  
DEKA R, 1995, AM J HUM GENET, V57, P508
[6]   Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features [J].
Durr, A ;
Stevanin, G ;
Cancel, G ;
Duyckaerts, C ;
Abbas, N ;
Didierjean, O ;
Chneiweiss, H ;
Benomar, A ;
LyonCaen, O ;
Julien, J ;
Serdaru, M ;
Penet, C ;
Agid, Y ;
Brice, A .
ANNALS OF NEUROLOGY, 1996, 39 (04) :490-499
[7]  
Endo K, 1996, AM J MED GENET, V67, P437, DOI 10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO
[8]  
2-H
[9]  
Flanigan K, 1996, AM J HUM GENET, V59, P392
[10]  
Geschwind DH, 1997, AM J HUM GENET, V60, P842