Larsen B, Johnson G, van Loghem E, Marshall W H, Newton R M, Pryse-Phillips W, Skanes V
Clin Genet. 1980 Jul;18(1):13-9. doi: 10.1111/j.1399-0004.1980.tb01358.x.
Serum IgG, IgA, and IgM concentrations were measued in 120 members of a family with 33 cases of Dystrophia myotonica (Dm) and 27 members who were "possibly affected". The Dm individuals had significantly lower serum concentrations of IgG and IgA (P<0.01), while the "possibly affected" did not differ from the matched pair controls. IgG subclass concentrations were measured and GM and Am types determined. The lower concentration of IgA in the affected individuals was not associated with a particular Am type. The concentration of IgG3 was barely lower in the effected than in the controls (P=0.05), but there were no differences for IgG1. When IgG3 concentratin was compared according to Gm haplotype, only the two affected individuals who were Gm gg had a statistically significant lower concentration than the 12 controls (P<0.02). Thus, there is no evidence that a particular subclass of IgG is being hypercatabolized in our Dm patients. A rare Gm haplotype, Gm(-, n, b) had entered the family with two brothers; it is not known whether this codes for an IgG1-IgG3 hybrid molecule or a normal IgG1 molecule with an unknown Gm allele or a gamma 1 deleted Gm haplotype.
在一个有33例强直性肌营养不良症（Dm）患者和27名“可能患病”成员的家族的120名成员中测量了血清IgG、IgA和IgM浓度。Dm患者的血清IgG和IgA浓度显著较低（P<0.01），而“可能患病”的成员与配对对照无差异。测量了IgG亚类浓度并确定了GM和Am类型。患病个体中IgA浓度较低与特定的Am类型无关。患病个体中IgG3的浓度仅略低于对照组（P=0.05），但IgG1无差异。当根据Gm单倍型比较IgG3浓度时，只有两名Gm gg的患病个体的浓度显著低于12名对照（P<0.02）。因此，没有证据表明我们的Dm患者中特定的IgG亚类正在被过度分解代谢。一种罕见的Gm单倍型Gm(-, n, b)随着两兄弟进入了这个家族；尚不清楚它编码的是IgG1-IgG3杂交分子、具有未知Gm等位基因的正常IgG1分子还是缺失γ1的Gm单倍型。
