Chern C J, Beutler E
Am J Hum Genet. 1976 Jan;28(1):9-17.
The mean PNK activity in red blood cells from black subjects was only about 40% of that in whites. Among 51 whites examined, one was found to have enzyme deficiency. The estimated gene frequencies for PNKH (the common allele in whites which codes for higher enzyme activity) and PNKL (the common allele in blacks which codes for lower enzyme activity) were .35 and .65, respectively, for black donors, and .81 and .19, respectively, for white donors, The variant enzyme in persons with enzyme deficiency was associated with an increased rate of degradation in red cells during aging. No other biochemical or electrophoretic differences were detected.
黑人受试者红细胞中的平均PNK活性仅约为白人的40%。在接受检查的51名白人中,发现1人存在酶缺乏。对于黑人献血者,编码较高酶活性的常见等位基因PNKH和编码较低酶活性的常见等位基因PNKL的估计基因频率分别为0.35和0.65,而对于白人献血者,这两个基因频率分别为0.81和0.19。酶缺乏者体内的变异酶与衰老过程中红细胞降解速率增加有关。未检测到其他生化或电泳差异。