| Project/Area Number |
11670744
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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 | The University of Tokyo |
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Principal Investigator |
SAKAKIHARA Youichi Univ. of Tokyo, Faculty of Medicine, Lecturer, 医学部・附属病院, 講師 (10143463)
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| Co-Investigator(Kenkyū-buntansha) |
KUBOTA Masaya Univ. of Tokyo, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 助手 (90251272)
SAITO Makiko Univ. of Tokyo, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 助手 (20225733)
柳澤 正義 東京大学, 医学部・附属病院, 教授 (90049031)
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| Project Period (FY) |
1999 – 2001
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2001: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2000: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | spinal muscular atrophy / SMN1 / SMN2 / SMN遺伝子 / マイクロサテライトマーカー |
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| Research Abstract |
Spinal muscular atrophy (SMA) is a frequent autosomal recessive neurodegenerative disorder with progressive weakness and atrophy of voluntary muscles. The survival motor neuron gene (SMN) is present in two highly homologues copies (SMN 1 and SMN 2) on chromosome 5q13. Homozygous deletion of exons 7 and 8 of SMN 1 is responsible for SMA. In SMA patients, SMN 2 partially compensate the lack of SMN 1. Previously we reported the relative high incidence of large deletion including SMN1 region in Japanese SMA type I patients. The purpose of this study to demonstrate another genetic back ground of Japanese SMA type I patients investigating the the SMN 1 to SMN 2 ratio in carriers. As expected, in normal individuals there is one copy of each gene on a chromosome (SMN1/SMN2 was 1). In this study we determined the SMN1/SMN2 ratios of 14 parents and one carrier sibling of Japanese type I SMA patients with homozygous deletion of exons 7 and 8 of SMN1. We found that the SMN1/SMN2 ratio was 0.5 or 1 in eleven (73.3%) carriers. Residual four carriers had the SMN1/SMN2 ratio of 1/3. This finding supports the idea that the deletion rather than conversion is the main genetic event in type I SMA. For further insight into the characteristic genetic background of SMA in Japan, identification of gene copy number is essential.
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