急性间歇性卟啉症家族中红细胞尿卟啉原-I-合成酶水平的遗传调控。
Genetic regulation of the red cell uroporphyrinogen-I-synthetase level in families with acute intermittent porphyria.
作者信息
Wetterberg L, Floderus Y, Thunell S, Iselius L, Lindsten J
出版信息
Clin Genet. 1983 Dec;24(6):403-6. doi: 10.1111/j.1399-0004.1983.tb00094.x.
Abstract
The uroporphyrinogen-I-synthetase (UIS) activity in red blood cells was determined in 206 individuals from 48 nuclear families ascertained through a proband with acute intermittent porphyria (AIP) as well as in 230 members belonging to 53 nuclear families with no signs of AIP. Complex segregation analysis showed that the UIS activity is regulated by a major locus (a dominant or additive gene) together with a considerable multifactorial component.
摘要
通过急性间歇性卟啉病（AIP）先证者确定的48个核心家庭的206名个体以及53个无AIP迹象的核心家庭的230名成员的红细胞中尿卟啉原-I-合成酶（UIS）活性进行了测定。复杂分离分析表明，UIS活性由一个主要位点（显性或加性基因）以及相当大的多因素成分共同调节。
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