Ninfali P, Baronciani L, Bardoni A, Bresolin N
Institute of Biological Chemistry G, Fornaini, University of Urbino, Italy.
Clin Genet. 1995 Nov;48(5):232-7. doi: 10.1111/j.1399-0004.1995.tb04095.x.
Muscle expression of G6PD deficiency has been investigated in Mediterranean, Seattle-like and A-variants. G6PD activity was detected in samples obtained from biopsies on the quadriceps muscle of seven males and one female. The type of genetic variant was determined by molecular analysis of DNA, extracted from blood samples. All variants showed the enzyme defect in muscle. A statistically significant relationship was found in the activity of G6PD between erythrocytes and muscle of the male subjects (r = 0.968; p = 0.00008). The equation for the best fit line was: Y = 0.390X + 0.198. The results suggest that, for a given variant, the extent of the enzyme defect in muscle may be determined, using this equation, from the G6PD activity of erythrocytes.
已对地中海型、西雅图样和A变异型葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的肌肉表达进行了研究。在从7名男性和1名女性股四头肌活检获得的样本中检测到了G6PD活性。通过对从血样中提取的DNA进行分子分析来确定基因变异类型。所有变异型在肌肉中均表现出酶缺陷。在男性受试者的红细胞和肌肉中，发现G6PD活性存在统计学上的显著相关性（r = 0.968；p = 0.00008）。最佳拟合线方程为：Y = 0.390X + 0.198。结果表明，对于给定的变异型，使用该方程可根据红细胞的G6PD活性来确定肌肉中酶缺陷的程度。
