2001 Fiscal Year Annual Research Report

末梢神経障害、知能低下、低アルブミン血症を伴う遺伝性小脳性失調症の遺伝子座

Research Project

Project/Area Number	13670821
Research Institution	Sapporo Medical University
Principal Investigator	舘延忠札幌医科大学, 保健医療学部, 助教授 (80136944)
Co-Investigator(Kenkyū-buntansha)	小塚直樹札幌医科大学, 保健医療学部, 助教授 (90225459) 山下利春札幌医科大学, 医学部, 講師 (50167706)
Keywords	EOCA-HA / AOA / FLJ20157 / AOA1 gene
Research Abstract	本邦のみから報告されてきた常染色体劣性遺伝形式を呈するEarly onset cerebellar ataxia with hypoalbuminemia(EOCA-HA)とポルトガルに存在する常染色体劣性遺伝形式を呈するCerebellar ataxia with ocular apraxia(AOA)とは、alleleicな疾患で原因遺伝子(AOA1)は染色体9p13.3領域、すなわちD9S1817とD9S1878間の2cMに存在することが明らかにされた。さらにこのを領域をgenemap99 databaseを用いて検索すると、microsaterate marker M25、M24,D9S1788,D9S1845,D9S165,MS26間に存在すること明らかになった。UCSC Assembly of Human Genomeを用いて検索すると、この臨界領域に10個(RIG-1,NDUFB6,LUN-1,FLJ20157,HSJ2,FU10805,B4GALT1,BAG1,HSPC177,NFX1)の遺伝子の存在が明らかになつた。この10個の遺伝子の1つ1つを患者DNAで解析するとFLJ20157に本邦での患者で2、ポルトガルの患者で2の変異が同定された。この原因遺伝子FLJ20157をAOA1 geneと名付けた。AOA1 geneの発現をRT-PCRを用いてmouseとヒト組織で検討している。

Research Products
(7 results)

All Other

All Publications (7 results)

[Publications] Tachi N, Kozuka N, Chiba S et al.: "A double mutation in a patient with X-linked myotubular myopathy"Pediatric Neurol. 24. 297-299 (2001)
[Publications] Tachi N, Chiba S, Matsuo M: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin"Pediatric Neurol. 24. 373-378 (2001)
[Publications] Tachi N, Kozuka N, Ohya K: "Expression of peripheral myelin protein zero in aural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatric Neurol. 24. 33-35 (2001)
[Publications] Moreira MC, Barbot C, Tachi N: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor aparaxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)
[Publications] Tachi N, Kozuka N, Ohya K: "Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation"Eur Neurol. 43. 82-87 (2000)
[Publications] Tachi N, Kozuka N, Ohya K: "Charcot-Marie-Tooth disease type 1A duplication by POR analysis"Pediatric Neurol. 20. 360-363 (1999)
[Publications] 舘延忠: "今日の小児治療指針"Werdning-Hoffmann病、Kugelberg-Welander病. 443 (2000)

2001 Fiscal Year Annual Research Report

末梢神経障害、知能低下、低アルブミン血症を伴う遺伝性小脳性失調症の遺伝子座

Principal Investigator

舘 延忠 札幌医科大学, 保健医療学部, 助教授 (80136944)

Research Products

[Publications] Tachi N, Kozuka N, Chiba S et al.: "A double mutation in a patient with X-linked myotubular myopathy"Pediatric Neurol. 24. 297-299 (2001)

[Publications] Tachi N, Chiba S, Matsuo M: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin"Pediatric Neurol. 24. 373-378 (2001)

[Publications] Tachi N, Kozuka N, Ohya K: "Expression of peripheral myelin protein zero in aural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatric Neurol. 24. 33-35 (2001)

[Publications] Moreira MC, Barbot C, Tachi N: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor aparaxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)

[Publications] Tachi N, Kozuka N, Ohya K: "Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation"Eur Neurol. 43. 82-87 (2000)

[Publications] Tachi N, Kozuka N, Ohya K: "Charcot-Marie-Tooth disease type 1A duplication by POR analysis"Pediatric Neurol. 20. 360-363 (1999)

[Publications] 舘 延忠: "今日の小児治療指針"Werdning-Hoffmann病、Kugelberg-Welander病. 443 (2000)

舘延忠札幌医科大学, 保健医療学部, 助教授 (80136944)

[Publications] 舘延忠: "今日の小児治療指針"Werdning-Hoffmann病、Kugelberg-Welander病. 443 (2000)