作者
Hiroto Matsumine, Masaaki Saito, Satoe Shimoda-Matsubayashi, Hajime Tanaka, Atsushi Ishikawa, Yuko Nakagawa-Hattori, Masayuki Yokochi, Tomonori Kobayashi, Shuichi Igarashi, Hiroki Takano, Kazuhiro Sanpei, Ryoko Koike, Hideo Mori, Tomoyoshi Kondo, Yoshihiko Mizutani, AA Schäffer, Yasuhiro Yamamura, Shigenobu Nakamura, Shigeki Kuzuhara, Shoji Tsuji, Yoshikuni Mizuno
发表日期
1997/3
期刊
American journal of human genetics
卷号
60
期号
3
页码范围
588
出版商
Elsevier
简介
An autosomal recessive form of juvenile Parkinsonism (AR-JP)(MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. By linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2), we found a family with AR-JP showing perfect segregation of the disease with the SOD2 locus. By extending the linkage analysis to 13 families with AR-JP, we discovered strong evidence for the localization of the AR-JP gene at chromosome 6q25. 2-27, including the SOD2 locus, with the maximal cumulative pairwise LOD scores of 7.26 and 7.71 at D6S305 (theta=. 03) and D6S253 (theta=. 02), respectively. Observation of obligate recombination events, as well as multipoint linkage analysis, placed the AR-JP gene in a 17-cM interval between D6S437 and D6S264 …
引用总数
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H Matsumine, M Saito, S Shimoda-Matsubayashi… - American journal of human genetics, 1997