Wilson A F, Elston R C, Siervogel R M, Weinshilboum R, Ward L J
Am J Med Genet. 1984 Nov;19(3):525-32. doi: 10.1002/ajmg.1320190314.
Segregation analysis has provided evidence suggesting the existence of a major gene for catechol-o-methyltransferase (COMT) activity in man. Five large families (4 Caucasian, 1 black), with a total of 1,189 individuals, were ascertained as part of a genetic study of blood pressure. Erythrocyte COMT activity and status at 25 polymorphic genetic marker loci were determined on more than 518 individuals in these pedigrees. Genetic linkage analysis of COMT with each of the 25 marker loci was performed in two ways: 1) using parameter estimates from segregation analysis of untransformed COMT activity, and 2) using parameter estimates from segregation analysis of the power transformation of the COMT activity that maximized the likelihood of the genetic hypothesis in each family. Tight and close linkage were excluded at 21 and 15 loci, respectively. A lod score of 1.27 at theta = 0.1 was found between the loci for COMT activity and phosphogluconate dehydrogenase (PGD). Transformation of the data had little effect on the outcome of the linkage analysis.
分离分析已提供证据表明人类中存在儿茶酚 - O - 甲基转移酶（COMT）活性的主基因。作为血压遗传研究的一部分，确定了五个大家族（4个白种人家族，1个黑人家族），共1189人。对这些家系中518多名个体测定了红细胞COMT活性以及25个多态性遗传标记位点的状态。COMT与25个标记位点中的每一个的遗传连锁分析通过两种方式进行：1）使用未转换的COMT活性分离分析的参数估计值，以及2）使用COMT活性幂变换的分离分析的参数估计值，该幂变换在每个家族中最大化了遗传假设的似然性。分别在21个和15个位点排除了紧密和接近连锁。在COMT活性位点和磷酸葡萄糖酸脱氢酶（PGD）位点之间，在θ = 0.1时发现连锁值为1.27。数据转换对连锁分析结果影响不大。
