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

目的探讨胃动素（motilin,MLN）基因第二外显子的多态性位点rs228182044C〉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rs228182044C〉T]与CHPS发病无关（P=0.522）。结论胃动素基因的多态性位点rs228182044C〉T]与中国汉族人群CHPS发病无关。

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

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.