[総説］小児科領域における遺伝子病の解析 : オルニチントランスカルバミラーゼ欠損症、アンジェルマン症候群

概要

論文の詳細を見る
During the last two decades, molecular biology has made striking progress and many genes responsible for human genetic diseases have been identified. A decade ago, it took months to analyze a gene in patients with certain geneticdisease. Now, advanced molecular biology technology allows us to analyze mutation(s) of the gene within a few days. This technology also indicates that more than one gene is responsible for one clinical entity. This means that we cannot fully understand the pathogeneses of a disease without considering the expression or regulation of plural genes. Thus, it is very crucial to obtain genetic information faster and more accurately than ever so as to analyze the involvement of genetic factors in diseases. With our unique molecular biological technique, we analyzed two distinct genetic diseases. One is ornithine transcarbamylase (OTC) deficiency, which is a single gene disorder caused by a defect of the urea cycle enzymes. We detected 40 mutations on the OTC gene, and clarified the relation between genotype and phenotype of OTC deficiency. The other disease is Angelman syndrome (AS), which is regarded as a contiguous gene syndrome, caused by defect of several genes on chromosome 15q11-q13. Our molecular analysis of this region showed that UBE3A gene, encoding E6-AP ubiquitin-protein ligase, played the most important role in AS.
琉球医学会,Ryukyu Medical Associationの論文