Arnaud J, Constans J
CRPG-CRNS, CHU Purpan, Toulouse, France.
Hum Genet. 1993 Sep;92(2):183-8. doi: 10.1007/BF00219689.
Human vitamin D binding protein (DBP) displays considerable polymorphism with 120 described alleles. Among these, three alleles are frequently observed, Gc 1F (pI 4.94-4.84), Gc 1S (pI 4.95-4.85) and Gc 2 (pI 5.1). Differences between these genetic forms of the protein in affinity for vitamin D metabolites have been detected by electrophoretic methods. The constant affinity (Ka) values determined in this study confirm these differences. The affinities of six rare variants were also examine. Those of the DBP genetic forms to the vitamin D derivatives 25-OH-D3 and 1,25-(OH)2-D3 seem to be related to the isoelectric point of the proteins: a high affinity corresponding to a low isoelectric point. The Gc 1A9 and 1A11 mutants were associated with higher affinity for the vitamin D derivatives and the Gc 1C1 and 1C21 mutants were deficient.
人类维生素D结合蛋白(DBP)表现出相当大的多态性,有120个已描述的等位基因。其中,经常观察到三个等位基因,即Gc 1F(等电点4.94 - 4.84)、Gc 1S(等电点4.95 - 4.85)和Gc 2(等电点5.1)。通过电泳方法已检测到该蛋白这些遗传形式对维生素D代谢物亲和力的差异。本研究确定的恒定亲和力(Ka)值证实了这些差异。还检测了六个罕见变体的亲和力。DBP遗传形式对维生素D衍生物25 - OH - D3和1,25 - (OH)2 - D3的亲和力似乎与蛋白质的等电点有关:等电点低则亲和力高。Gc 1A9和1A11突变体对维生素D衍生物具有较高的亲和力,而Gc 1C1和1C21突变体则缺乏这种亲和力。