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日本金泽大学医学部第二内科助教授马浏宏和该大学研究生梶波康二等利用限制酶片段长度多型性(RFLP)确诊显性遗传性疾病家族性血胆甾醇过多症(FH)已经取得成功。FH在日本和欧美发病率高,每500人中有1人,使死于成年人的代表性疾病动脉硬化和心肌梗塞的人很多。因为已经了解发病机制是在基因水平上,治疗法也已取得进步,这就增加了早期诊断以区别非 FH 的血胆甾醇过多症与 FH 的重要性。现在已经能够确诊,马浏等调查了30
Ma Jianhong, assistant professor of internal medicine, Medical Faculty, Faculty of Medicine, Kanazawa University, Japan, and Hiroyuki Koji, a second graduate student at the University of Japan, have successfully identified familial hypercholesterolemia (FH) using restriction fragment length polymorphism (RFLP) . FH has a high prevalence in Japan and Europe and the United States, with one out of every 500 people, causing many people who die of arteriosclerosis and myocardial infarction, a common disease in adults. Since it has been known that the pathogenesis is genetically improved, therapies have also progressed, adding to the importance of early diagnosis to distinguish between non-FH hypercholesterolemia and FH. It has now been diagnosed, Ma and other investigations 30