摘要
目的 探讨髓样分化蛋白-2（myeloid differentiation-2,MD-2）基因多态性与新生儿坏死性小肠结肠炎（necrotizing enterocolitis,NEC）的关系. 方法 采用基因测序方法,对201 1年6月1日至2012年5月31日在广州市妇女儿童医疗中心新生儿重症监护病房诊治的42例NEC新生儿（NEC组）行MD-2基因外显子和启动子功能性多态性区域重测序,并将功能性多态位点与同期的83例非NEC新生儿（对照组）进行比较分析.采用x2检验进行统计学分析. 结果 42例NEC患儿MD-2基因外显子区域均未检测到多态性位点,NEC组和对照组启动子区均检测到C-1625G多态位点[rs11465996（C＞G）],存在C/C和C/G这2种基因型;2组C/G基因型频率分别为38.1％（16/42）和30.1％（25/83）,差异无统计学意义（x2=0.805,P=0.370）;NEC手术组C/G基因型频率为55.0％ （11/20）,与对照组比较,差异有统计学意义（x2=4.388,P=0.036）;在NEC病例中,手术病例和足月儿病例C/G基因型频率分别较非手术病例和早产儿病例增高,但2组差异无统计学意义（x2=3.343,P=0.067; x2=0.913,P=0.339）. 结论 MD-2基因外显子区域的多态性与NEC的发病无关,启动子区域C 1625G多态性（G等位基因）可能与NEC的严重程度相关.
Objective To investigate the relationship between myeloid differentiation （MD-2） gene polymorphisms and necrotizing enterocolitis （NEC） in neonates.Methods A gene-sequencing method was used to re-sequence the exons and the promoter functional polymorphism region （rs11465996） of MD-2 gene of 42 NEC neonates admitted in neonatal intensive care unit of Women and Children＇s Medical Center,Guangzhou Medical University from June 1,2011 to May 31,2012.These functional polymorphism loci were compared with 83 non NEC cases.The Chi square test was used for statistical analysis.Results No polymorphism was detected in the exons of MD-2 gene in any of the 42 cases of NEC.The C-1625G polymorphism [rs11465996 （C＞G）] was identified in both the NEC and control groups,and there were two genotypes,C/C and C/G.The frequency ofC/G genotype in the NEC group （38.1％,16/42） did not differ significantly compared to that in the control group （30.1％,25/83） （x2=0.805,P=0.370）.However,the frequency of C/G genotype in severe NEC cases （operation group） （55.0％,11/20） was significantly higher than that in the control group （x2=4.388,P=0.036）.Among the NEC group,the frequency of C/G genotype in operation cases and term infants was higher than that of the non-operation cases and preterm infants,although the differences were not significant （x2=3.343,P=0.067; xx2=0.913,P=0.339）.Conclusions The polymorphisms in the exons of MD-2 gene are not associated with the development of NEC.The rs 1 1465996 polymorphism （G allele） in the promoter region may be related to the severity of NEC.
出处
《中华围产医学杂志》
CAS
北大核心
2014年第5期342-346,共5页
Chinese Journal of Perinatal Medicine
基金
广东省自然科学基金（S2011010001814）
