Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

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题名:	Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
作者:	謝明麗 C.Gaspar I.Lopes-Cendes S.Hayes J.Goto K.Arvidsson A.Dias I.Silveira P.Maciel P.Coutinho M.Lima Y.-X.Zhou B.-W.Soong M.Watanabe P.Giunti G.Stevanin O.Riess H.Sasaki M.Hsieh G.A.Nicholson E.Brunt J.J.Higgins M.Lauritzen L.Tranebjaerg V.Volpini N.Wood L.Ranum S.Tsuji A.Brice J.Sequeiros G.A.Rouleau
贡献者:	McGill University Universidade do Porto Niigata University Universidade dos Açores China-Japan Friendship Hospital Veterans General Hospital Gunma University University of London Hôpital de la Salpétrière Ruhr-University Hokkaido University Chung Shan Medical and Dental College University of Sydney Department of Medicine
关键词:	Machado-Joseph disease
日期:	2001-02
上传时间:	2016-07-28T06:49:09Z (UTC)
出版者:	USA:American Society of Human Genetics
摘要:	Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder originally described in families of Portuguese-Azorean ancestry. The cloning of the MJD1 gene allowed identification of the disease in many other populations, and MJD is now known to be the most common cause of dominant spinocerebellar ataxia. The hypothesis that its present world distribution could result from the spread of an original founder mutation has been raised, both at historical and molecular levels. In the present study, we tested this hypothesis by linkagedisequilibrium analysis of tightly linked polymorphisms and by haplotype comparison, in 249 families from different countries. We typed five microsatellite markers surrounding the MJD1 locus (D14S1015, D14S995, D14S973, D14S1016, and D14S977), and three intragenic single–base-pair polymorphisms (A669TG/G669TG, C987GG/G987GG, and TAA1118/TAC1118). The results show two different haplotypes, specific to the island of origin, in families of Azorean extraction. In families from mainland Portugal, both Azorean haplotypes can be found. The majority of the non-Portuguese families also share the same intragenic haplotype seen in the families coming from the island of Flores, but at least three other haplotypes were seen. These findings suggest two introductions of the mutation into the Portuguese population. Worldwide, the sharing of one intragenic haplotype by the majority of the families studied implies a founder mutation in MJD.
關聯:	American journal of human genetics, 68(2), 523-528
显示于类别:	[生命科學系所] 期刊論文

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