摘要
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 whether the pathogenesis of Kawasaki disease(KD) is associated with mannose-binding protein(MBP) gene codon 54(GGC/GAC) polymorphism.Methods 95 patients with KD and 160 healthy subjects were studied. The genotype of MBP gene 54 codon were detected by polymerase chain reaction restriction fragment length polymorphism(PCR RFLP).Results The genotype frequency of heterozygote was significantly higher in KD group than that in healthy subjects(45 2% vs 25 0%,P<0 05), and the allele frequency of GAC mutation was also higher in KD patients than that in control group(25 8% vs 13 8%,P<0 05).Conclusion The codon 54 polymorphism of MBP gene is associated with KD. It is possible that MBP gene codon 54 mutation might be related to the pathogenesis of KD.
出处
《中国实用儿科杂志》
CSCD
北大核心
2003年第2期83-85,共3页
Chinese Journal of Practical Pediatrics
