胃动素基因多态性与先天性肥厚性幽门狭窄传递不平衡分析  

Association of motilin gene polymorphism with congenital hypertrophic pyloric stenosis in Han Chinese by the transmission/disequilibrium test

作　　者：冯志强[1] 聂玉强[1] 张又祥[2] 

机构地区：[1]广州市第一人民医院消化内科广州市消化病重点实验室,510180 [2]广州市第一人民医院儿科,510180

出　　处：《现代消化及介入诊疗》2011年第6期355-358,共4页Modern Interventional Diagnosis and Treatment in Gastroenterology

基　　金：广州市卫生局重点项目资助(2007-Zdi-10)

摘　　要：目的探讨胃动素(motilin,MLN)基因第二外显子的多态性位点rs2281820[44C>T]与先天性肥厚性幽门狭窄(congenital hypertrophic pyloric stenosis,CHPS)发病易感性的关联。方法对广州市第一人民医院住院的22个汉族核心家系(CHPS患者及父母双亲)采用PCR及测序方法进行基因分型,应用传递不平衡检验判断基因多态性与CHPS发病的关联。结果测序结果未发现新的突变位点;患儿及父母组内这两个多态性位点的Hardy-Weinberg平衡检验均P>0.05,TDT检验提示多态性位点rs2281820[44C>T]与CHPS发病无关(P=0.522)。结论胃动素基因的多态性位点rs2281820[44C>T]与中国汉族人群CHPS发病无关。Objective To investigate the association of single nucleotide polymorphisms locus rs2281820 [44C〉T] in the motilin gene with congenital hypertrophic pyloric stenosis （CHPS） in Chinese Han population. Materials and Methods The study was conducted on 22 nuclear families comprised of a total of 66 individuals. Peripheral blood samples were collected and genomic DNA was extracted. The polymorphism locus rs2281820 [44C〉T] was genotyped with PCR and DNA sequencing. Transmission disequilibrium test （TDT） was performed for family based study. Results Genotypic distributions of the polymorphic locus in both groups（patients and proband＇s parents） were in conformity with Hardy-Weinberg equilibrium（P 〉 0.05）. There was not significant preferential transmission of T allele of rs2281820 from the parents to affected offspring （TDT： = 3.769, P= 0.522）. Conclusions The polymorphism locus rs2281820 in MLN gene does not associate with CHPS in Chinese Han population.

关 键 词：先天性肥厚性幽门狭窄 胃动素基因 TDT分析 rs2281820 

分 类 号：R726.566.3[医药卫生—儿科]