深圳地区儿童PHOX2B单核苷酸多态性与先天性巨结肠易感性的关系  

Association between genetic polymorphisms of PHOX2B and susceptibility of Hirschsprung’s disease in Shenzhen region

作　　者：肖东[1] 刘磊[1] 缪小平[1] 毛健雄[1] 

机构地区：[1]深圳市儿童医院普外科,深圳516086

出　　处：《山西医科大学学报》2009年第12期1083-1084,共2页Journal of Shanxi Medical University

摘　　要：目的探讨PHOX2B第二内含子区的单核苷酸多态IVS2+100G/A与先天性巨结肠遗传易感性的关系。方法以聚合酶链反应(PCR)和直接测序分析方法,检测58例先天性巨结肠病人和150例正常对照者PHOX2B IVS2+100G/A的基因型,比较不同基因型与先天性巨结肠风险的相关性。结果PHOX2B IVS2+100AA基因型频率在先天性巨结肠患者和正常对照中的分布有显著性差异(P=0.04),携带PHOX2B IVS2+100AA基因型者罹患先天性巨结肠的风险是携带PHOX2B IVS2+100GG或是GA基因型者的2.06倍(95%CI,1.00-4.40)。结论PHOX2B基因单核苷酸多态IVS2+100G/A可能是中国人先天性巨结肠的遗传易感因素。Objective To explore the relationships of a single nucleotide polymorphism IVS2 ＋ 100G/A of PHOX2B and susceptibility of Hirschsprung＇ s disease（HSCR）in Shenzhen region. Methods Genotypes of IVS2 ＋ 100G/A were determined in 58 patients with HSCR and 150 normal controls by PCR and direct sequencing. The adjusted odds ratios（ORs） and 95% confidence intervals（Cls） were calculated using logistic regression model. Results The genotype frequency distribution of PHOX2B IVS2 ＋ 100 AA was significantly different（ P = 0.04）. Risk of HSCR associated with homozygous genotypes of the PHOX2B IVS2 ＋ 100AA was found compared with the PHOX2B IVS2 ＋ 100GG or GA genotypes （ OR = 2.06,95% CI 1.00 - 4.40）. Conclusion These findings suggest that PHOX2B polymorphism IVS2 ＋ 100G/A may be a genetic susceptibility factor for HSCR among Chinese population.

关 键 词：先天性巨结肠 PHOX2B 单核苷酸多态性 分子遗传学 

分 类 号：R726[医药卫生—儿科]