caa a22 4500 397575904 CHVBK 20180308164856.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1253 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1253 Founder Effect in Spinal and Bulbar Muscular Atrophy (SBMA) [Elektronische Daten] [Fumiaki Tanaka, Manabu Doyu, Yasuhiro Ito, Michiyo Matsumoto, Terunori Mitsuma, Koji Abe, Masashi Aoki, Yasuto Itoyama, Kenneth H. Fischbeck, Gen Sobue] We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 ± 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range from 40-55 with a median of 47 ± 3 copies. The control chromosomes had seven different alleles of the (GGC)n repeat with the range of 11 to 17; the most frequent size of (GGC)n was 16 (79%), while (GGC)17 was very rare (1%). However, in SBMA chromosomes only two alleles were seen; the most frequent size of (GGC)n was 16 (61%) followed by 17 (39%). (GGC)n size distribution was significantly different between SBMA and control chromosomes (P <0.0001), indicating the presence of linkage disequilibrium. There was no allelic association between the (CAG)n and (GGC)n microsatellites among control subjects as well as SBMA patients, which suggests that a founder effect makes a more significant contribution to generation of Japanese SBMA chromosomes than new mutations. © 1996 Oxford University Press Tanaka Fumiaki Department of Neurology, Nagoya University School of Medicine, Japan aut Doyu Manabu Department of Neurology, Nagoya University School of Medicine, Japan aut Ito Yasuhiro Department of Neurology, Nagoya University School of Medicine, Japan aut Matsumoto Michiyo Department of Neurology, Nagoya University School of Medicine, Japan aut Mitsuma Terunori Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi 480-11, Japan aut Abe Koji Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut Aoki Masashi Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut Itoyama Yasuto Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut Fischbeck Kenneth H. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6146, USA aut Sobue Gen Department of Neurology, Nagoya University School of Medicine, Japan aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1253-1257 0964-6906 5:9<1253 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1253 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1253 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tanaka Fumiaki Department of Neurology, Nagoya University School of Medicine, Japan aut NATIONALLICENCE 700 1- Doyu Manabu Department of Neurology, Nagoya University School of Medicine, Japan aut NATIONALLICENCE 700 1- Ito Yasuhiro Department of Neurology, Nagoya University School of Medicine, Japan aut NATIONALLICENCE 700 1- Matsumoto Michiyo Department of Neurology, Nagoya University School of Medicine, Japan aut NATIONALLICENCE 700 1- Mitsuma Terunori Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi 480-11, Japan aut NATIONALLICENCE 700 1- Abe Koji Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut NATIONALLICENCE 700 1- Aoki Masashi Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut NATIONALLICENCE 700 1- Itoyama Yasuto Department of Neurology, Tohoku University School of Medicine, Sendai 980, Japan aut NATIONALLICENCE 700 1- Fischbeck Kenneth H. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6146, USA aut NATIONALLICENCE 700 1- Sobue Gen Department of Neurology, Nagoya University School of Medicine, Japan aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1253-1257 0964-6906 5:9<1253 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford