新生儿肠旋转不良PITX2基因第2和第5外显子序列多态性分析

Polymorphism analysis of exons 2 and 5 of PITX2 gene of neonatal intestinal malrotation

目的通过分子遗传学研究筛查新生儿肠扭转不良患儿PITX2基因外显子2、5基因突变情况。方法选取2012年1月至2014年12月在石河子大学医学院第一附属医院住院并符合新生儿肠扭转不良诊断标准的患儿15例（试验组）和体检健康的新生儿25例（健康对照组）作为研究对象。实验组中肠扭转15例，肠扭转合并十二指肠闭锁4例，肠扭转合并空肠闭锁3例。记录临床特征并分别抽取外周静脉血3mL，乙二胺四乙酸抗凝后，抽提基因组DNA，应用聚合酶链反应（PCR）扩增P1TX2基因外显子2和外显子5，并对PCR扩增后的片段直接测序筛查该基因2个位点是否存在突变。结果基因比对结果显示，实验组15例肠扭转不良患儿与健康对照组25例新生儿均未检测到PITX2基因外显子2和外显子5基因突变。结论PITX2基因外显子2和外显子5在小群体新生儿中未检测出多态性，但并不能排除该基因通过其他方式致使新生儿发生肠扭转不良症的可能。

Objective To screen the neonatal malrotation with PITX2 gene exon 2 and 5 gene mutation through the study on molecular genetics. Methods From January 2012 to December 2014,15 cases of neonatal malrotation infants （experimental group）and 25 healthy newborn infants （healthy control group） were selected as the research suhjects from the First Affiliated Hospital of Shihezi University Medical College. The experimental group included 15 cases of volvulus ,4 cases of volvulus with duodenal atresia and 3 cases of volvulus with jejunal atresia. The clinical features were recorded and 3 mL peripheral venous blood from each subject was collected. After ethylenediamine tetraaeetic acid （EDTA） anticoagulation,genomic DNA was extracted. Palymerase chain reaction （PCR） was used to amplify the exon 2 and exon 5 of PITX2 gene, and the direct sequencing method was used to screen whether there were mutations in these 2 loci. Results According to the findings of the matching gene,PITX2 gene exon 2 and exon 5 mutations were not detected in 15 cases with intestinal malrotation of the experimental group and 25 healthy newborns in the healthy control group. Conclusions Polymorphisms is not detected in PITX2 gene exon 2 and exon 5 in small groups of newborn, but this does not exclude the possibility the gene caused newborns suffering from intestinal malrotation by other means.