胃动素基因多态性与先天性肥厚性幽门狭窄的相关性

Correlation between motilin gene polymorphism and congenital hypertrophic pyloric stenosis

目的探讨中国汉族人群中胃动素基因多态性位点rs2281820[44C〉T]与先天性肥厚性幽门狭窄（CHPS）发病的关系。方法采用病例一对照研究的方法，在中国汉族人群中收集2006年7月至2009年8月在本院就诊的29例CHPS散发病例为CHPS组，60例无血缘关系的健康成人为对照组。采用PCR及测序的方法进行基因分型，比较2组间基因型及等位基因分布。结果与对照组比较，CHPS组的CC基因型频率及C等位基因频率差异无统计学意义[86．21％（25／29）比80．00％（48／60），91．38％（53／58）比89．17％（107／120），均P〉0．05]。结论胃动素基因的rs2281820[44C〉T]位点多态性与中国汉族人群CHPS发病无相关。

Objective To investigate the correlation between motilin gene polymorphic loci rs2281820 [44C〉T] and congenital hypertrophic pyloric stenosis （CHPS） in Han Chinese. Methods A case-control study was performed in 29 sporadic CHPS cases who visited our clinic between July 2006 and August 2009, and 60 unrelated healthy controls of Han Chinese. Polymerase chain reaction （PCR） and DNA sequencing were applied for genotyping, with genotype and allele distribution compared between two groups. Results The frequencies of CC genotype and C allele had no statistical difference between CHPS group and controls [86.21% （25/29） vs 80.00% （48/60） , 91.38% （53/58） vs 89.17% （107/120） , both P〉0.05]. Conclusion Polymorphism of motilin gene loci rs2281820 [44C〉T] is not correlated with occurrence of CHPS in Han Chinese