低氧诱导因子-1α基因C1772T/G1790A多态性与HIE及HIE致脑性瘫痪的关系  

Relationship between Hypoxia Inducible Factor-1 α Gene C1772T/G1790A Single Nucleotide Polymorphism and Hypoxic-Ischemic Encephalopathy and Cerebral Palsy Caused by Hypoxic-Ischemic Encephalopathy

作　　者：袁金晶[1] 李冰[2] 吴德[1] 杨阳[1] 杨亚丽[3] 徐玲[3] 童光磊[4] 梁兵 唐久来[1] 

机构地区：[1]安徽医科大学第一附属医院小儿神经康复中心,合肥230022 [2]合肥市妇幼保健院儿科,合肥230001 [3]济南市儿童医院康复科,济南250022 [4]安徽省立儿童医院神经康复科,合肥230001 [5]苏州市博爱学校,江苏苏州215021

出　　处：《实用儿科临床杂志》2010年第19期1500-1502,共3页Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(30940079)

摘　　要：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 explore the relationship between hypoxia inducible factor-1 α（HIF-1α）gene C1772T/G1790A single nucleotide polymorphisms and hypoxic-ischemic encephalopathy（HIE）and cerebral palsy caused by HIE.Methods Seventy-eight cases of full-term neonates with HIE（group A）,100 cases of healthy children（group B）,and 92 cases of full-term neonates with cerebral palsy with a clear history of HIE（group C）were selected as research subjects.Peripheral blood was collected from children in 3 groups,respectively,genomic DNA was extracted following the kit instructions.Polymerase chain reaction（PCR）was used to amplified the target gene 346 bp,and then the products of PCR were used for digestion and electrophoresis.The ultimate statistics was compared after that.Results HIF-1α gene C1772T genotype CT type shared more in group A（30.77%）,and less in group B and group C（18.00% and 19.57%）.The distribution of HIF-1α gene G1790A genotype in group A and group B didn＇t meet the Hardy-Weinberg equilibrium test（P0.05）.The distribution of HIF-1α gene C1772T genotype was significantly different in the 3 groups（P0.05）.The distribution of HIF-1α gene C1772T genotype which compared among the mild,moderate and severe HIE patients in group A had no significant difference（P0.05）,and had significant difference in group C（P0.05）.Conclusions HIF-1α gene C1772T single nucleotide polymorphisms are associated with HIE.HIF-1α gene C1772T genotype in HIE patients in the CT-type play a role in brain protection,may be reduced cerebral palsy arise due to severe sequelae of HIE.

关 键 词：缺氧缺血性脑病 脑性瘫痪 低氧诱导因子-1α基因 C1772T单核苷酸多态性 

分 类 号：R742.3[医药卫生—神经病学与精神病学]