Jenhani F, Bardi R, Gorgi Y, Ayed K, Jeddi M
Laboratory of Immunology, Faculté de médecine de Tunis, Tunisie.
J Autoimmun. 1992 Apr;5(2):149-60. doi: 10.1016/0896-8411(92)90196-w.
The polymorphism of C4A and C4B genes was investigated in Tunisian patients with insulin dependent diabetes (IDDM) and compared to family members (sibs) and to healthy controls. Multiplex families were analysed. A significant increase in C4AQO (26.86% vs 6.90%) and C4BQO (40.29% vs 8.28%) phenotypes was noted in IDDM patients compared with controls. Using RFLP analysis, we confirmed the high frequency of C4 null alleles. We also observed that most of these alleles were genes deleted in IDDM patients (72.23% vs 20% for CA4QO and 74.07% vs 16.70% for C4BQO). A significant decrease in the C4B long (14.92% vs 67.12%) form of the gene was also demonstrated by RFLP analysis compared with controls. Two haplotypes were frequently associated with IDDM patients in whom the C4A and C4B were deleted genes.
在突尼斯胰岛素依赖型糖尿病（IDDM）患者中研究了C4A和C4B基因的多态性，并与家庭成员（兄弟姐妹）及健康对照进行比较。分析了多个家系。与对照组相比，IDDM患者中C4AQO（26.86%对6.90%）和C4BQO（40.29%对8.28%）表型显著增加。通过限制性片段长度多态性（RFLP）分析，我们证实了C4无效等位基因的高频率。我们还观察到，这些等位基因中的大多数是IDDM患者中缺失的基因（C4AQO为72.23%对20%，C4BQO为74.07%对16.70%）。与对照组相比，RFLP分析还显示C4B基因长型（14.92%对67.12%）显著减少。两种单倍型常与C4A和C4B为缺失基因的IDDM患者相关。
