Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.
1997; National Institutes of Health; Volume: 60; Issue: 3 Linguagem: Inglês
Autores
Hiroto Matsumine, Masaaki Saito, Satoe Shimoda‐Matsubayashi, Hajime Tanaka, Akira Ishikawa, Yuko Nakagawa-Hattori, M Yokochi, Tomonori Kobayashi, S. Igarashi, Hiroki Takano, Kazuhiro Sanpei, Ryuji Koike, Hiroki Mori, Toshikazu Kondo, Yukiko Mizutani, A.A. Schäffer, Yasuhisa Yamamura, Sho Nakamura, Shigeki Kuzuhara, Shoji Tsuji, Yoshikuni Mizuno,
Tópico(s)Neurological diseases and metabolism
ResumoAn 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. Delineation of the AR-JP gene will be an important step toward our understanding of the molecular mechanism underlying selective degeneration of the nigral neurons.
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