[遗传性粪卟啉原血症中遗传性酶缺陷的证明]
[Demonstration of hereditary enzyme defect in coproporphyria].
作者信息
Grandchamp B, Phung N, Grelier M, de Verneuil H, Noiré J, Ohnet J P, Nordmann Y
出版信息
Nouv Presse Med. 1977 Apr 30;6(18):1537-9.
PMID:866144
Abstract
We measured lymphocytes Coproporphyrinogen III Oxidase activity in 17 subjects with hereditary coproporphyria. The mean activity was about 50% of that in lymphocytes from normal subjects. This finding suggests that decreased coproporphyrinogen III oxidase activity reflects the primary genetic defect in Hereditary Coproporphyria. The technique described allows easy detection of asymptomatic carriers.
摘要
我们检测了17名遗传性粪卟啉病患者淋巴细胞中的粪卟啉原III氧化酶活性。平均活性约为正常受试者淋巴细胞的50%。这一发现表明，粪卟啉原III氧化酶活性降低反映了遗传性粪卟啉病的原发性基因缺陷。所描述的技术能够轻松检测出无症状携带者。
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