Ferraris A M, Giuntini P, Galiano S, Gaetani G F
Am J Hum Genet. 1981 Mar;33(2):307-13.
The electrophoretic difference between normal glucose-6-phosphate dehydrogenase (G6PD) and two common variants (G6PD A and G6PD A-) has made the G6PD enzyme system very useful for genetic studies and for investigation on the clonal origin of tumors. This approach has not been possible for another common variant, G6PD mediterranean, which has a normal electrophoretic pattern. The different utilization of 2-deoxy-glucose-6-phosphate (2dG6P), an analog of the normal substrate, by the normal enzyme and the Mediterranean variant, allows a convenient determination of the degree of mosaicism in mononuclear cells from heterozygotes.
正常葡萄糖-6-磷酸脱氢酶(G6PD)与两种常见变体(G6PD A和G6PD A-)之间的电泳差异,使得G6PD酶系统在遗传研究和肿瘤克隆起源研究中非常有用。对于另一种常见变体G6PD地中海型,这种方法并不适用,因为它具有正常的电泳图谱。正常酶和地中海型变体对正常底物类似物2-脱氧葡萄糖-6-磷酸(2dG6P)的不同利用,使得方便地测定杂合子单核细胞中的嵌合程度成为可能。