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目的 探讨甘露糖结合蛋白 (MBP)基因第 5 4号密码子GGC→GAC变异与川崎病 (KD)的关系。方法 采用PCR RFLP法对中国汉族 16 0例健康儿童及 95例川崎病患儿的MBP基因多态性进行检测。结果 中国汉族健康儿童MBP基因多态性分布与文献报道的中国香港地区华人及丹麦高加索人群无统计学差异。川崎病患儿MBP基因GGC/GAC基因型频率明显高于健康对照组 (45 2 %vs 2 5 0 % ,P <0 0 5 ) ,而GGC/GGC基因型频率显著低于健康对照组 (5 1 6 %vs 73 8% ,P <0 0 5 )。川崎病患儿GAC等位基因频率明显高于健康对照组(2 5 8%vs 13 8% ,P <0 0 5 ) ,而GGC等位基因频率明显低于健康对照组 (74 2 %vs 86 2 % ,P <0 0 5 )。结论 川崎病发病受遗传背景影响 ,与MBP第 5 4号密码子基因多态性密切相关。
Objective To investigate the relationship between mutation of GGC → GAC at codon 5 4 of Mannose binding protein (MBP) gene and Kawasaki disease (KD). Methods PCR-RFLP was used to detect the polymorphism of MBP gene in 160 Han children and 95 children with Kawasaki disease. Results There was no significant difference in MBP gene polymorphism distribution between healthy Han children and Han Chinese and Danish Caucasians in Hong Kong, China. The frequency of GGC / GAC genotype of MBP gene in children with Kawasaki disease was significantly higher than that in healthy controls (45.2% vs 25.0%, P <0.05), while the frequency of GGC / GGC genotype was significantly lower than that in healthy controls 1 6% vs 73 8%, P <0 05). The frequency of GAC allele in children with Kawasaki disease was significantly higher than that in healthy controls (25.8% vs 13.8%, P <0.05), but the frequency of GGC alleles was significantly lower than that in healthy controls (74.2% vs 86 2%, P <0 0 5). Conclusion The incidence of Kawasaki disease is affected by the genetic background, which is closely related to the polymorphism of codon 54 of MBP.