中文摘要：

目的检测胆道畸形患儿HEX基因的单核苷酸多态性（SNPs），探索HEX基因与胆道闭锁（BA）和胆总管囊肿（CBD）发病的相关性。方法BA患儿117例，其中男72例，女45例，年龄1～6个月（1～2个月12例，243个月42例，大于3个月63例）。CBD患儿32例，其中男6例，女26例，年龄1个月～13岁。另取门诊正常体检儿童（无畸形）51例为对照组。提取外周血白细胞DNA，对HEX基因进行PCR扩增并测序，然后对HEX基因序列多态性进行分析，探讨其与胆道畸形发病的相关性。结果24例存在Exon124G／A多态性位点（BA组19例，其中含AA等位基圜纯合子型4例；CBD组3例，对照组2例，两组均为GA杂合型）；18例存在Exon326T／G多态性位点（BA组12例，CBD组2例，对照组4例，三组各含GG等位基因纯合子型1例，其余为TG杂合型）。分别采用卡方检验及Fisher精确概率法进行统计学分析，发现Exon124G／A多态性位点与BA发病有高度相关性（OR=4．75，95％可信区间1．0632～21．2207，P=0．026），而该基因Exon多态性与CBD发病无明显统计学意义（P〉0．05）。结论HEX基因Exon124G／A多态性位点可能影响基因翻译，进而影响肝胆系统的发育，与BA发病具有高度相关性。

英文摘要：

Objective To investigate the relationship between the single nucleotide polymorphisms （SNP） in HEX gene and biliary duct abnormality. Methods One hundred and seventeen patients with biliary atresia （BA） were recruited in this study including 72 males and 45 females. Among BA patients, 12 patients aged 1-2 months old, 42 aged 2-3 months old and 63 older than 3 months. Thirty two patients with choledochal cysts （CBD） were enrolled in this study including 6 males and 26 females. The CBD patients aged from 1 month to 13 years old. The control group included 34 males and 17 females without any abnormality. Genome DNA of peripheral blood was extracted, and HEX gene was amplified by PCR. The production of PCR was sequenced. Results Two SNPs sites were found. One SNP site was 24 Co-A transversion of SNP located at Exon 1, which was found in 24 cases including 19 BA patients, 3 CBD patients, and 2 controls. Four of the 19 BA patients had AA homozygote allele. The 3 CBD patients and 2 controls had GA heterozygote allele. The other SNP site was 26 T-G transversion of SNP locating at the upstream of Exon 3, which was found in lg cases including 12 BA patients, 2 CBD patients, and 4 controls. The 24 G-A transversion of SNPs was correlated with the morbidity of BA （OR = 4. 75, 95% CI 1. 0632-21. 2207）. Conclusions 24 G/A polymorphisms of Exon 1 in HEX gene is associated with the morbidity of BA.