Elston R C, Namboodiri K K, Hames C G
Hum Hered. 1979;29(5):284-92. doi: 10.1159/000153059.
Dopamine-beta-hydroxylase (DBH) activity in serum was measured by spectrophotometric methods in 95 persons of a large family (HGAR 2), along with 27 polymorphic markers from blood, urine and saliva. The distribution of DBH activity, after appropriate transformation and age adjustment, showed a significantly better fit to a mixture of two normal distributions than a single normal distribution. Pedigree segregation analyses showed evidence of a possible major gene governing low levels of DBH activity, segregating in this family in a recessive fashion. Linkage analyses between that major locus and the 27 polymorphic markers showed no significant lod scores favoring linkage. The highest lod score obtained was 0.81 with Lp at zero recombination fraction. In addition, published data on DBH activity measured by radiochemical assays on 22 families with 161 members were reanalyzed as a quantitative trait, with appropriate correction for ascertainment bias. The results were similar to that of HGAR 2, corroborating the existence of a major locus for DBH activity.
采用分光光度法对一个大家庭（HGAR 2）中的95人进行血清多巴胺-β-羟化酶（DBH）活性测定，并对其血液、尿液和唾液中的27个多态性标记物进行检测。经过适当转换和年龄调整后，DBH活性的分布显示，与单一正态分布相比，其更符合两个正态分布的混合。系谱分离分析表明，可能存在一个控制低水平DBH活性的主基因，该基因在这个家族中以隐性方式分离。该主基因座与27个多态性标记物之间的连锁分析显示，没有显著的优势对数分数支持连锁。在零重组率时，与Lp标记得到的最高优势对数分数为0.81。此外，对已发表的关于22个家庭（共161名成员）通过放射化学分析法测定DBH活性的数据作为数量性状进行重新分析，并对确定偏倚进行适当校正。结果与HGAR 2的结果相似，证实了存在一个控制DBH活性的主基因座。
