Podymov V K, Vinogradova O M, Kovaleva V L, Kochubeĭ L N, Galstian S M
Ter Arkh. 1988;60(6):95-8.
Acetylation phenotype distribution (activity of N-acetyltransferase enzyme) was studied in 29 patients with periodical disease (PD), 73 healthy persons (Armenians), and 20 patients (also Armenians) suffering from epithelial coccygeal cysts. The results obtained indicated the prevalence of slow acetylation phenotype (67%) in the entire Armenian population. PD was characterized by slow acetylation type (28 of 29 patients had slow acetylation with a high frequency of very slow inactivators). The other hereditary pathology, also specific for Armenians (epithelial coccygeal cysts), was characterized by another type of acetylation--a rapid one. The role of slow acetylation as a genetic marker of PD was discussed.
对29例周期性疾病(PD)患者、73名健康人(亚美尼亚人)以及20例患有上皮性尾骨囊肿的患者(同样是亚美尼亚人)进行了乙酰化表型分布(N - 乙酰转移酶活性)研究。所得结果表明,在整个亚美尼亚人群中慢乙酰化表型的患病率为67%。PD的特征为慢乙酰化类型(29例患者中有28例为慢乙酰化,其中极慢灭活剂的频率较高)。另一种同样是亚美尼亚人特有的遗传性疾病(上皮性尾骨囊肿),其特征为另一种乙酰化类型——快乙酰化。文中讨论了慢乙酰化作为PD遗传标志物的作用。