Maekawa M, Kanda S, Sudo K, Kanno T
Am J Hum Genet. 1984 Nov;36(6):1204-14.
To detect the frequency of lactate dehydrogenase (LDH) subunit deficiency, screening for LDH subunit deficiency was performed on 3,776 blood samples from healthy individuals in Shizuoka Prefecture by means of electrophoresis. The frequency of heterozygote with LDH-A subunit deficiency was found to be 0.185%, and with LDH-B subunit deficiency, 0.159%. The frequencies of both subunit deficiencies were not significantly different. Gene frequencies of LDH subunit deficiencies were calculated by the simple counting procedure, and the results are as follows: gene frequency of LDH-A subunit deficiency was 11.9 X 10(-4), and that of LDH-B subunit deficiency, 7.9 X 10(-4). In addition, the second case in the world of a homozygous individual with LDH-A subunit deficiency was detected by this screening. This case with regard to the characteristics of LDH-A subunit deficiency are summarized herein.
为检测乳酸脱氢酶（LDH）亚基缺乏症的发生率，我们采用电泳法对静冈县3776名健康个体的血样进行了LDH亚基缺乏症筛查。结果发现，LDH - A亚基缺乏杂合子的发生率为0.185%，LDH - B亚基缺乏杂合子的发生率为0.159%。两种亚基缺乏症的发生率无显著差异。通过简单计数法计算LDH亚基缺乏症的基因频率，结果如下：LDH - A亚基缺乏症的基因频率为11.9×10⁻⁴，LDH - B亚基缺乏症的基因频率为7.9×10⁻⁴。此外，通过此次筛查发现了世界上第二例LDH - A亚基缺乏纯合个体。本文总结了该病例中LDH - A亚基缺乏症的特征。
