東京大学 · 医学
東城教授の研究室は、ガウーシェル病をはじめとするリソソーム酵素症の遺伝子変異解明を柱としており、特にグルコセラブラコアーゼ遺伝子の変異と疾患型との関連を分子遺伝学的手法で解明しています。特に、タイプ1、2、3型ガウーシェル病における特異的ヌクレオチド変異の同定と、その機能的影響の評価を進めています。また、遺伝子診断への応用を視野に入れたRFLP解析やアレル特異的プローブ技術の開発も行っています。
Figures are computed from collected data and may differ slightly.
To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a cloned glucocerebrosidase gene from a patient with Gaucher's disease with a normal gene. We found only a single base substitution (T----C) in exon X. This mutation results in the substitution of proline for leucine in position number 444 and produces a new cleavage site for the NciI restriction endonuclease. We analyzed NciI enzymatic digests of genomic DNA from 20 pat
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization wi
Open papers in the app to read, cite, and organize with AI.
