Genetics of paraoxonase
Genetics of paraoxonase
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对氧磷酶的遗传学
DOI：
10.1111/j.1469-1809.1981.tb00345.x
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发表时间：
1981
影响因子：
1.9
通讯作者：
J. Mohr
中科院分区：
文献类型：
--
作者：
H. Eiberg;J. Mohr
丹麦的家庭材料包括1664名无血缘关系的个人(父母)和3169名儿童，以及699名同一家庭的祖父母，对对氧磷酶活性进行了检查。采用了一种微量自动分析仪方法，包括在pH 7-5的Tris缓冲液中进行一次测试，对于主要的中间体个体，在pH为10的情况下进行二次测试。这比仅在pH 7.5时进行测试具有更好的区分性，因为初级活性分布低模式周围的个体在pH 10附近有最适pH，而在最高模式附近的个体最适pH在pH 8.5。通过这种联合测试，所有个体都可以明确地被归类为低或高，并且家系材料与代表常染色体隐性基因纯合性的低表型相容，频率为Plow=0-726。在5532个个体中，有5个几乎完全缺乏对氧磷酶活性。
Danish family material comprising 1664 unrelated individuals (parents) and 3169 children, as well as 699 grandparents of the same families, were examined for paraoxonase activity. A micro‐autoanalyser method, comprising a primary testing in tris buffer at pH 7‐5 and, in the case of primarily intermediate individuals, a secondary testing at pH 10, was applied. This gave a better discrimination than testing only at pH 7.5, because individuals around the low mode of the primary activity distribution had their pH optimum at pH 10, while the optimum of individuals around the high was at pH 8.5. By this combined testing all individuals could be unequivocally classified as ‘low’ or ‘high’, and the family material was compatible with the low phenotype representing homozygosity for an autosomal recessive gene with a frequency Plow= 0–726. Out of 5532 individuals, 5 showed an almost complete lack of paraoxonase activity.