儿童外伤性脑梗死与蛋白S基因多态性的关系

The association between protein S gene polymorphism and traumatic cerebral infarction of children

目的探讨儿童外伤性脑梗死发生发展与蛋白S基因多态性的关系。方法应用聚合酶链反应(PCR)和限制性酶切片段长度多态性(RFLP)技术对61例外伤性脑梗死患儿蛋白S基因A2148G多态性进行分析。结果蛋白S基因型与等位基因频率分别为:GG基因型57.38%、GA基因型37.70%、AA基因型6.55%,G等位基因76.23%、A等位基因23.77%;外伤性脑梗死患儿GG基因型和G等位基因频率明显高于对照组,差异有统计学意义(P<0.05);蛋白S GG基因型发生外伤性脑梗死的相对危险高,OR值为3.14。结论蛋白S GG基因型可能是儿童外伤性脑梗死的易感基因型。开展儿童外伤性脑梗死与蛋白S基因多态性关系的研究对于探讨儿童外伤性脑梗死的发病机制,寻找儿童外伤性脑梗死的保护基因和易感基因及预防和及时治疗儿童外伤性脑梗死有重要意义。

Objective To investigate the relationship between the occurrence and development of traumatic cerebral infarction in children and the gene polymorphism of S protein.Methods Sixty-one children with traumatic cerebral infarction who were treated in the hospital from January 2003 to October 2008 were recruited.The method of PCR-RFLP（restriction fragment length polymorphism）was used to analyze the A2148G polymorphism in S protein gene.Results The genotype frequencies at this locus were 57.38%,37.70% and 6.55% for the genotypes GG,GA and AA,repectively.The allele frequencies were 76.23% and 23.77% for 2148G and 2148A,respectively.The frequencies of GG genotype and G allele were significantly higher in the children with traumatic cerebral infarction than those in control group.Traumatic cerebral infarction occurred with relatively higher risk in the children with GG genotype at A2148G locus（OR = 3.14）.Conclusions The GG genotype at protein S A2148G locus may be a susceptible genotype of traumatic cerebral infarction in children.The research on the relationship between pediatric traumatic cerebral infarction and protein S gene polymorphism is of important signifisance to explore the pathogenesis of this disease and find a good way to prevent and treat it early in children.