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中文摘要：
目的探索TMX基因外显子6上的多态性位点rs7161242[c．492T〉G]及外显子7上的多态性位点rs7160810[c．648G〉A]与先天性肥厚性幽门狭窄（CHPS）发病易感性的关联。方法对广州市第一人民医院收治的22个汉族核心家系（CHPS患者及父母）采用PCR及测序的方法进行基因分型。应用传递不平衡检验（TDT）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rs7161242的G等位基因及rs7160810的A等位基因均与CHPS发病相关，其P值分别为2．0×10^-4和5．699×10^-5。连锁不平衡分析结果提示，这两个位点的r2为0．757，D值为0．893，成紧密连锁。结论TMX基因的多态性位点rs7161242[c．492T〉G]及rs7160810[c．648G〉A]与中国汉族人群CHPS发病密切相关。
英文摘要：
Objective To investigate the correlation between susceptibility of congenital hypertrophic pyloric stenosis （CHPS） and TMX gene nucleotide polymorphism sites rs7161242 （c.492T〉G） and rs7160810（c.648G〉A）. Methods Twenty-two key families comprised of patients with CHPS and their parents from The Municipal First People＇ s Hospital of Guangzhou were recruited. Polymerase chain reaction and gene sequencing were conducted for genotyping, and the correlation between polymorphism and susceptibility of CHPS was determined via transmission disequilibrium test （TDT）. Results Gene sequencing did not show evidence of novel mutant sites. Hardy- Weinberg equilibrium test on both polymorphism sites between CHPS patients and their parents failed to yield statistical significance （P〉0.05）. The G allele of rs7161242 and A allele of rs7160810 were correlated with incidence of CHPS （P=2.0×10^-4 and 5.699×10^-5, respectively） , as shown by TDT. Linkage disequilibrium analysis produced r2 value of 0.757 and D value of 0.893 between both sites. Conclusion TMX gene polymorphism sites, rs7161242 （c.492T〉G） and rs7160810 （c.648G〉A）, are correlated with incidence of CHPS in Chinese Han population.
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