Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease
Kotaro Endo
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorHidenao Sasaki
Department of Neurology, National Sanatorium West-Niigata Central Hospital, Niigata, Japan
Search for more papers by this authorAkemi Wakisaka
Department of Neurology and Department of Pathology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan
Search for more papers by this authorHajime Tanaka
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorMasaaki Saito
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorShuichi Igarashi
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorYoshihisa Takiyama
Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, Japan
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorKazuhiro Sanpei
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorKiyoshi Iwabuchi
Department of Neurology and Psychiatry, Kanagawa Rehabilitation Center, Atsugi, Kanagawa, Japan
Search for more papers by this authorYoshihiro Suzuki
Department of Internal Medicine III, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorKeiko Onari
Department of Neurology, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan
Search for more papers by this authorTomokazu Suzuki
Department of Clinical Genetics, Kyushu University, Beppu, Fukuoka, Japan
Search for more papers by this authorJean Weissenbach
Genethon, Evry, Unité de Génétique Moléculaire Humain, CNRS URA 1445, Institut Pasteur, Paris, France
Search for more papers by this authorJames L. Weber
Marshfield Medical Research Foundation, Marshfield, Wisconsin
Search for more papers by this authorYoshiko Nomura
Segawa Neurological Clinic for Children, Chiyoda-ku, Tokyo, Japan
Search for more papers by this authorMasaya Segawa
Segawa Neurological Clinic for Children, Chiyoda-ku, Tokyo, Japan
Search for more papers by this authorMasatoyo Nishizawa
Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, Japan
Search for more papers by this authorCorresponding Author
Shoji Tsuji
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951, JapanSearch for more papers by this authorKotaro Endo
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorHidenao Sasaki
Department of Neurology, National Sanatorium West-Niigata Central Hospital, Niigata, Japan
Search for more papers by this authorAkemi Wakisaka
Department of Neurology and Department of Pathology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan
Search for more papers by this authorHajime Tanaka
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorMasaaki Saito
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorShuichi Igarashi
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorYoshihisa Takiyama
Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, Japan
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorKazuhiro Sanpei
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Search for more papers by this authorKiyoshi Iwabuchi
Department of Neurology and Psychiatry, Kanagawa Rehabilitation Center, Atsugi, Kanagawa, Japan
Search for more papers by this authorYoshihiro Suzuki
Department of Internal Medicine III, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorKeiko Onari
Department of Neurology, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan
Search for more papers by this authorTomokazu Suzuki
Department of Clinical Genetics, Kyushu University, Beppu, Fukuoka, Japan
Search for more papers by this authorJean Weissenbach
Genethon, Evry, Unité de Génétique Moléculaire Humain, CNRS URA 1445, Institut Pasteur, Paris, France
Search for more papers by this authorJames L. Weber
Marshfield Medical Research Foundation, Marshfield, Wisconsin
Search for more papers by this authorYoshiko Nomura
Segawa Neurological Clinic for Children, Chiyoda-ku, Tokyo, Japan
Search for more papers by this authorMasaya Segawa
Segawa Neurological Clinic for Children, Chiyoda-ku, Tokyo, Japan
Search for more papers by this authorMasatoyo Nishizawa
Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, Japan
Search for more papers by this authorCorresponding Author
Shoji Tsuji
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan
Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951, JapanSearch for more papers by this authorAbstract
To identify the markers tightly linked to Machado-Joseph disease (MJD) and to investigate whether a limited number of ancestral chromosomes are shared by Japanese MJD pedigrees, a detailed linkage analysis employing D14S55, D14S48, D14S67, D14S291, D14S280, AFM343vf1, D14S81, D14S265, D14S62, and D14S65 was performed. The results of multipoint linkage analysis as well as detection of critical recombination events indicate that the gene for MJD is localized in a 4-cM region between D14S280-D14S81. We found strong linkage disequilibria at AFM343vf1 and D14S81, and association of a few common haplotypes with MJD. These results indicate that there is an obvious founder effect in Japanese MJD and suggest the possibility of the existence of predisposing haplotypes which are prone to expansions of CAG repeats. © 1996 Wiley-Liss, Inc.
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