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特発性心筋症が家族性に現われることは,1949年Evansにより1)初めて記載されて以来多数の報告が行われている2〜6)。なかでも肥大型とくに閉塞性は,高い家族性発生率と浸透率を示す常染色体性優性遺伝とみなされている7,8)。
ところで,近年臓器移植の分野から研究されてきたHLA (human leukocyte antigen:ヒト白血球抗原)は各種疾患の遺伝解析に応用されるようになり9,10),特発性心筋症もその対象になりつつある11,12)。
We performed HLA typing on patients with hypertrophic cardiomyopathy (probands) and on their family members to reveal genetic factors in the pathogenesis of the disease.
Nine unrelated Japanese patients with hyper-trophic cardiomyopathy (8 males and one female)were included and ages ranged from 25 to 50 years. The diagnosis was established by cardiac catheterization and/or echocardiography. HLA-A, B typing was performed by a microdroplet lymphocyte cytoxicity method. HLA antigen frequencies in 9 patients were compared with those in 195 controls. We also determined the HLA types in available members of 9 families.
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