2024-03-28T22:18:58Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00022343
2022-12-15T03:52:43Z
453:456
471:537:538:1199
Molecular Genetic Analysis of Juvenile Sandhoff Disease(Disorders Characterized by Evidence of Abnormal Lipid Metabolism)
4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)
4) 若年性Sandhoff病の分子遺伝学的解析(シンポジウム 各科領域における脂質代謝異常, 第447回新潟医学会)
若松, 延昭
135814
Juvenile Sandhoff disease
N-acetyl-β-hexosaminidase
local panatrophy
reduced mRNA
若年性サンドホフ病
ヘキソサミニダーゼ
A case of juvenile type Sandhoff disease presenting with mental retardation and local panatrophy was reported. In the patient, total hexosaminidase (Hex) activity of leukocytes was decreased to 17% of control, and Hex B activity was barely detectable. On Cellogel electrophoresis, majority of the residural Hex activity in the patient's leukocyte was Hex S (α, α), and Hex A (α, β) was present in a minor form. On Southern blot hybridization analysis using Hex β subunit cDNA as a probe, the patient's DNA showed identical pattern to those of normal controls. On Northern blot hybridization analysis, the amount of Hex β mRNA was markedly reduced, although the size was identical to that of control. These results suggest that the new phenotype of Sandhoff disease is caused by a small mutation in the Hex β chain gene, which leads to decreased amount of Hex β mRNA.
departmental bulletin paper
新潟医学会
1990-04
application/pdf
新潟医学会雑誌
4
104
260
266
新潟医学会雑誌
AN00182415
00290440
https://niigata-u.repo.nii.ac.jp/record/22343/files/104(4)_260-266.pdf
jpn