Shatskaya T L, Krasnopolskaya K D, Idelson L J
Hum Genet. 1976 Jul 27;33(2):175-8. doi: 10.1007/BF00281892.
Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their analogues and are not associated with chronic hemolytic disease. Probably, all 4 variants arise from two ancestral mutations.
在3名患有严重酶缺乏症的非亲缘关系的阿什肯纳兹犹太患者中发现了两种新的红细胞葡萄糖6-磷酸脱氢酶变体。这两种变体与阿什肯纳兹人群中的另外两种变体：G6PD波士顿变体和G6PD基尔戈尔变体相似，但对底物及其类似物具有显著更高的亲和力，且与慢性溶血性疾病无关。这4种变体可能都源自两个祖先突变。
