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目的探讨低氧诱导因子-1α(HIF-1α)基因C1772T/G1790A的单核苷酸多态性与缺氧缺血性脑病(HIE)及HIE致脑性瘫痪(脑瘫)的关系。方法选择HIE足月新生儿78例(A组)及健康儿童100例(B组)、有明确HIE病史的足月脑瘫患儿92例(C组)作为研究对象。抽取外周静脉血,参照DNA提取试剂盒说明提取基因组DNA,PCR扩增目的基因,酶切鉴定后进行统计学分析。结果 A组、B组、C组的胎龄、出生体质量、性别及喂养方式比较差异均无统计学意义(Pa>0.05);A组HIF-1α基因C1772T基因型CT型所占较多(30.77%),B组、C组HIF-1α基因C1772T基因型CT型所占较少(分别为18.00%和19.57%);A组、B组、C组的HIF-1α基因C1772T基因型分布差异有统计学意义(P<0.05);A组轻度、中度、重度HIE患儿HIF-1α基因C1772T基因型分布比较差异无统计学意义(P>0.05),C组轻度、中度、重度HIE患儿HIF-1α基因C1772T基因型分布比较差异有统计学意义(P<0.05)。A组、B组HIF-α基因G1790A基因型分布不符合Hardy-Weinberg平衡检验(P<0.05)。结论 HIF-1α基因C1772T的单核苷酸多态性与新生儿HIE密切相关;HIF-1α基因C1772T基因型CT型在HIE患儿中起一定的脑保护作用,可能会减少HIE所致脑瘫的发生。
Objective To investigate the relationship between HIF-1α gene C1772T / G1790A single nucleotide polymorphisms and hypoxic-ischemic encephalopathy (HIE) and cerebral palsy (cerebral palsy) induced by HIE. Methods Seventy-eight neonates with full-term HIE and 100 healthy children were enrolled in this study. Totally 92 children with cerebral infarction with definite HIE history (group C) were selected as the study subjects. Peripheral venous blood was extracted and DNA extraction kit was used to extract genomic DNA. The target gene was amplified by PCR and identified by enzyme digestion before statistical analysis. Results There was no significant difference in gestational age, birth weight, sex and feeding pattern among groups A, B and C (P> 0.05). The C1772T genotype CT of HIF-1α gene in group A accounted for more 30.77%). The C1772T CT genotypes of HIF-1α gene in group B and group C were less (18.00% and 19.57%, respectively). The distribution of HIF-1α gene C1772T genotypes in group A, B and C was significantly different (P <0.05). There was no significant difference in the distribution of HIF-1αgene C1772T genotypes among mild, moderate and severe HIE children in group A (P> 0.05). The mild, moderate, The distribution of HIF-1α gene C1772T genotype in severe HIE children was significantly different (P <0.05). The genotype distribution of HIF-αgene G1790A in group A and group B did not accord with Hardy-Weinberg equilibrium test (P <0.05). Conclusion The single nucleotide polymorphism of HIF-1α gene C1772T is closely related to neonatal HIE. HIF-1α C1772T genotype CT plays a protective role in children with HIE and may reduce cerebral palsy induced by HIE occur.