| Project/Area Number |
08670930
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
MATSUISHI Toyojiro Kurume University, School of Medicine, Pediatrics., Associate professor, 医学部, 助教授 (60157237)
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| Co-Investigator(Kenkyū-buntansha) |
NAGAMITSU Shinichiro Kurume University, School of Medicine, Pediatrics., Research fellow, 医学部, 助手 (30258454)
IWANAGA Rikako Kurume University, School of Medicine, Pediatrics., Research fellow, 医学部, 助手 (20258396)
MURAKAMI Yoshihiko Kurume University, School of Medicine, Pediatrics., Research fellow, 医学部, 助手 (70258474)
YAMASHITA Yushiro Kurume University, School of Medicine, Pediatrics., Research fellow, 医学部, 助手 (90211630)
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| Project Period (FY) |
1996 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1997: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1996: ¥1,000,000 (Direct Cost: ¥1,000,000)
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| Keywords | paroxysmal kinesigenic choreoathetosis / autosomal dominant / linkage analysis / 16p / 常染色体優勢遺伝 / SSCP / 不随意運動発作症(PKC) / Paroxysmal dystonic choreoathetosis(PDC) / イオンチャンネル |
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| Research Abstract |
To charity the linkage analysis of paroxysmal kinesigenic choreoathetosis (PKC), we conducted the multicenter survey in Japan. A questionnaire was mailed to all members of Council of the Child Neurology Society in Japan including 229 medical institutions. The reply rate was 78%. We analyzed 101 patients with PKC,including 53 sporadic patients and 48 patients in 32 families. Eighty one of the 101 cases were men and 56% of the 32 families revealed an autosomal dominant inheritance with complete penetrance, and 22% had incomplete penetrance. Recently, the gene locus for familial infantile convulsion and paroxysmal choreoathetosis (ICCA) linked to the pericentromeric region of human chromosome 16 [Szepetowski et al, 1997].
We have studied four Japanese families in which PKC was inherited as an autosomal dominant trait together with variably expressed infantile convulsions. The human genome was screened with microsatellite markers regulary spaced. Markers were selected around D16S420, D16S411, D16S3133, D16S3093.
A maximum two-point LOD score of 2.408148 was obtained with D16S3093, and other markers including D16S3133 (LOD score 2.107205), D16S420 (LOD score 1.786341), D16S411 (LOD score 1.786342) were obtained. Familial cases of Japanese PKC was strongly suggested to link in the pericentromeric region of chromosome 16.
The beta-2type of tyrosin kinase C is situated around D16S420 and D16S411. Ionic channels and transporters could also play a role in the pathogenesis of PKC,tre gamma-subiunit of a sodium channel, a sodium/grucose co-transporter, and ATPase, calcium-transporting protein are encoded by genes situated in the regions of interest. We are planning the SSCP analysis of candidate genes.
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