川崎病患儿红细胞补体受体1数量基因多态性及红细胞免疫的变化

目的了解川崎病患儿外周血红细胞补体受体1(ECR1)分子在川崎病急性期及恢复期的表达,初步探讨红细胞免疫功能与ECR1数量基因多态性的相关性。方法分别采用红细胞C3b受体花环率和红细胞免疫复合物花环率,并利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测30例川崎病患儿(病例组)和28例健康儿童(对照组)的ECR1活性与ECR1数量基因多态性并进行比较。结果病例组患儿急性期红细胞C3b受体花环率低于对照组(P<0.01),恢复期病例组红细胞C3b受体花环率仍低于对照组(P<0.05),而红细胞免疫复合物花环率则接近对照组(P>0.05)。川崎病患儿HL和LL基因型的分布频率高于正常儿童(P<0.01),两组CR1等位基因的分布频率差异也有统计学意义,川崎病患儿L等位基因的分布频率明显高于正常儿童(P<0.01)。结论川崎病患儿急性期存在红细胞免疫功能低下,这是患儿CR1数量基因呈中低度表达所致,提示CR1基因的多态性可能在决定个体川崎病遗传易感性方面有重要作用。

Changes of erythrocyte CRI genomic density polymorphism and erythrocyte immune function in children with Kawasaki disease

Objective To explore the heredity susceptibility of children to Kawasaki disease (KD) through studying expression and genomic density polymorphism of peripheral erythrocyte complement receptor-1 (ECRI). Methods Thirty cases of KD patients and 28 cases of healthy children were included in this study. The rates of red blood cell (RBC)-C3bRR and RBC-ICR were detected by method described elsewhere. The ECR1 activity and genomic density polymorphism were detected by Hind Ⅲ restriction enzyme digestion polymerase chain reaction-restriction fragment length polymorphism. Results Rates of RBCoC3bRR of KD patients during the acute phase was significantly lower than that of the control group (P < 0.01), and remained lower than the control group during the recovering phase (P < 0.05). The rates of RBC-ICR were significantly higher in KD patients than that of the control group (P < 0.05). Frequencies of HL and LL genotypes of KD patients were more than those of the control group (P < 0.01). A significant difference was found in the frequency distribution of ECR1 genotype between the two groups (P < 0.01). L allele frequency in the patient group was higher than that in the control group. Conclusions Depressed RBC immune function in KD patients may be linked to the high frequency of L allele, which implies the genomic density polymorphism of ECR1 play an important role in determining susceptibility to Kawasaki disease. (J Clin Pediatr,2010,28(2):160-163)