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通过不同遗传机制传播的各种形式肌病中的双酚氧化酶。

Diphenoloxidases in various forms of myopathy which are transmitted by different genetic mechanisms.

作者信息

Demos J J, Tuil D G, Katz P C

出版信息

Hum Genet. 1982;61(3):185-9. doi: 10.1007/BF00296438.

Abstract

In a previous article (Demos et al. 1981), we reported a significant and specific reduction of the activity index (AI) of the diphenoloxidases (DPox) in patients and heterozygotes with progressive Duchenne muscular dystrophy (DMD), which is transmitted genetically by female subjects by a sex-linked recessive mechanism (SLR). This same anomaly was detected in patients suffering from other types of dystrophy: Becker, limbgirdle, fascio-scapulo-humeral, and in heterozygotes of either sex in diseases transmitted by an obviously recessive autosomic mechanism. These anomalies were detected using blood spots collected on absorbent paper and stored at 4 degrees C for different periods. They were of the same type as had previously been detected using blood platelets (Demos 1973).

摘要

在之前的一篇文章中(德莫斯等人,1981年),我们报道了患有进行性杜氏肌营养不良症(DMD)的患者及杂合子中,双酚氧化酶(DPox)的活性指数(AI)显著且特异性降低。DMD由女性通过X连锁隐性机制(SLR)进行遗传传递。在患有其他类型营养不良症的患者中也检测到了同样的异常,如贝克尔型、肢带型、面肩肱型,以及由明显隐性常染色体机制传递的疾病中的男女杂合子。这些异常是通过收集在吸水纸上并在4摄氏度下储存不同时间段的血斑检测到的。它们与之前使用血小板检测到的类型相同(德莫斯,1973年)。

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