Major gene model for the inheritance of catechol-O-methyltransferase activity in five large families.
Major gene model for the inheritance of catechol-O-methyltransferase activity in five large families.
复制标题
五个大家族儿茶酚-O-甲基转移酶活性遗传的主要基因模型。
DOI：
10.1002/ajmg.1320190214
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Elston,RC
中科院分区：
文献类型：
--
作者：
Siervogel,RM;Weinshilboum,R;Wilson,AF;Elston,RC
5个大家庭1189人，每个家族通过一个先证确定为原发性高血压。四个先证者是白人，一个是黑人。对551名家庭成员的红细胞儿茶酚- o -甲基转移酶（COMT）活性进行了测定。采用标准统计方法调查COMT活动的性别、年龄和家庭差异。最大似然方法用于拟合正态分布与COMT活性的混合。COMT活动明显是双峰的。对每个家庭未转换的COMT值、其平方根和自然对数进行系谱分离分析。在所有的家族和三种转化中，都不可能拒绝在Hardy - Weinberg平衡中具有两个等位基因的主基因孟德尔传播的假设。在大多数情况下，具有完全显性或隐性的遗传假设，或具有相同传递概率的假设被拒绝。虽然不同的转换对数据总体分布的偏度和峰度有很大的影响，但它们对这些分离分析的结果几乎没有影响。因此，这项研究有力地支持了COMT活性的变化在很大程度上是由于一个主要基因的影响这一概念。
Five large families including 1,189 individuals were each ascertained through one proband with essential hypertension. Four of the probands were white and one was black. Erythrocyte catechol‐o‐methyltransferase (COMT) activity was measured in 551 family members. Standard statistical methods were used to investigate sex, age, and family differences in COMT activity. Maximum‐likelihood methods were used to fit mixtures of normal distributions to COMT activity. COMT activity is distinctly bimodal. Pedigree segregation analyses were performed on the untransformed COMT values, their square roots, and natural logarithms in each family. In no family and under none of the three transformations was it possible to reject the hypothesis of Mendelian transmission of a major gene with two alleles in Hardy‐Weinberg equilibrium. In most cases a genetic hypothesis with complete dominance or recessiveness, or a hypothesis of equal transmission probabilities was rejected. While the different transformations had a large effect on the skewness and kurtosis of the overall distribution of the data, they had little effect on the outcome of these segregation analyses. Therefore, this study strongly supports the concept that variation in COMT activity is due in large part to the effects of a major gene.