反复腹痛患儿及其家族成员的幽门螺杆菌感染与HLA-DRB1、DQA1、DQB1等位基因频率分析

发布时间：2018-03-09 16:14

本文选题：家族　切入点：腹痛　出处：《昆明医科大学》2012年硕士论文　论文类型：学位论文

【摘要】：目的：了解反复腹痛患儿及其家族成员中幽门螺杆菌(Helicobacter pylori, Hp)感染的情况以及家族内Hp亚型的分布。研究患儿及其家族成员人类白细胞抗原(HLA)一DRBl、DQA、DQBl等位基因频率的分布,探讨患儿及其家族中HLA—DRBl.DQAl.DQBl基因位点上是否存在导致Hp感染的相关基因及Hp感染后出现反复腹痛症状的相关基因。方法：应用免疫印迹法对41个家庭196名成员进行Hp抗体亚型的检测。将其分为Hp阳性组与Hp阴性组。再将Hp阳性成员分为Hp感染后有腹痛症状组和Hp感染后无腹痛组。用聚合酶链反应-序列特异性引物(PCR—SSP)方法对所有家庭成员进行HLA—DRBl、DQAl、DQBl基因分型检测。结果：反复腹痛患儿家族中免疫印迹Hp亚型抗体阳性率87.2%,其中工型Hp感染占57.7%,Ⅱ型Hp感染占29.6%。Hp感染阳性率在患儿与二级亲属之间存在差异(P0.05)。家族成员患Hp感染性胃肠道疾病有家庭聚集现象。家族中Hp阳性组成员HLA—DRBl*1204、*14、*1527，，1534的基因频率明显低于Hp阴性组,两组比较存在显著性差异(0%vs6%, x3=20.839,P=O.000,Pc0.05:6%vs20%, x2=12.587,P=O.000,Pc0.05:1%vs8%, x2=16.166,P=O.OOO, Pc0.05)。家族中Hp阳性组成员HLA—DQAl*040101、*040102的基因频率明显低于Hp阴性组的家族成员,两组比较存在显著性差异(1%vs9%,x2=11.791, P=0.001,PcO.05；0%vs9%,x2=18.032,P=0.000,Pc0.05)。Hp感染后家族成员中有反复腹痛症状组HLA—DRBl*09的基因频率高于Hp感染后无腹痛组,但经等位基因多项比较校正后差异消失(12%vs3%, x2=8.555, P=0.003, Pc=0.0540.05)。而Hp感染后家族成员中有反复腹痛症状组HLA—DQAl*0302的基因频率明显高于Hp感染后无腹痛组,两组比较存在显著性差异(14%vs3%, x3=11.272,P=0.001、Pc0.05).其它等位基因频率比较差异无显著性。结论：反复腹痛的患儿及家庭成员中Hp感染阳性率高,部分患儿家庭内感染Hp菌株相似,存在家庭聚集现象。反复腹痛患儿与二级亲属之间Hp感染则存在显著差异,随年龄增加Hp感染率有增高趋势。在HLA-DRBl*1204、*14、*1527,1534及HLA—DQAl*040101、*040102位点上,家族中Hp阳性成员与Hp阴性成员之间存在免疫遗传学差异,即HLA—DRBl*1204、*14、*1527,1534及HLA—DQAl*040101、*040102可能是Hp感染的保护基因。HLA—DRB1*09是否是Hp感染后导致宿主出现腹痛的相关基因有待于进一步研究。HLA—DQAl*0302可能是Hp感染后导致宿主出现反复腹痛症状的致病基因。
[Abstract]:Objective: to investigate the prevalence of Helicobacter pylori (HP) infection and the distribution of HP subtypes in children with recurrent abdominal pain and their family members. To investigate the presence of genes related to HP infection and recurrent abdominal pain in children and their families at the HLA-DRBl.DQAl.DQBl locus. Methods: 196 members of 41 families were detected for HP antibody subtypes by Western blotting, which were divided into HP positive group and HP negative group. HP positive members were divided into two groups: the group with abdominal pain after HP infection and the group with no HP infection after HP infection. In abdominal pain group, all family members were detected by polymerase chain reaction-sequence specific primer polymerase chain reaction (PCR-SSPP) for HLA-DRBlN DQAlN DQBl genotyping. Results: the positive rate of immunoblotting HP subtype antibody was 87.2% in the family of children with recurrent abdominal pain, of which 57.7% was industrial HP infection, 29.6.HP positive rate was 29.6.Hp infection rate was different between the children and the second degree relatives. The family members had HP infection. The gene frequency of HLA-DRBl4Hp-positive group was significantly lower than that of HP negative group, and the gene frequency of HLA-DRBl4Hp-positive group was significantly lower than that of HP negative group, and the frequency of HLA-DRBl4 + group was significantly lower than that of HP negative group. There was a significant difference between the two groups, and there was a significant difference between the two groups. The gene frequency of HLA-DQAln040101 / 040102 in the HP positive group was significantly lower than that in the HP negative group, and there was a significant difference between the two groups. The gene frequency of HLA-DQAln040101 / 040102 in the HP positive group was significantly lower than that in the HP negative group, and there was a significant difference between the two groups, x212.587PO.000Pc0.050.The gene frequency of HLA-DQAln040101 / 040102 in the HP positive group was significantly lower than that in the HP negative group. There was a significant difference between the two groups. The gene frequency of HLA-DRBl*09 in the group with repeated abdominal pain symptoms after HP infection was higher than that in the group without abdominal pain after HP infection, and the gene frequency of HLA-DRBl*09 in the group with recurrent abdominal pain symptoms was higher than that in the group without abdominal pain after HP infection, and the gene frequency was higher in the group with recurrent abdominal pain symptoms than in the group without abdominal pain after HP infection, and the gene frequency of HLA-DRBl*09 in the group with recurrent abdominal pain symptoms was higher than that in the group without abdominal pain after HP infection. However, the difference disappeared after allelic comparison and correction. The gene frequency of HLA-DQAl*0302 in the group with repeated abdominal pain symptoms after HP infection was significantly higher than that in the group without abdominal pain after HP infection, x2 + 8.555, P0. 003, PcP0. 054. 05, and the gene frequency of HLA-DQAl*0302 was significantly higher in the group with repeated abdominal pain symptoms after HP infection than in the group without abdominal pain after HP infection. There was significant difference between the two groups in Vs3and X311.272P0. 001Pc0. 05. There was no significant difference in other alleles frequency. Conclusion: the positive rate of HP infection in children with recurrent abdominal pain and family members is high, and that in some children's families is similar. There was a phenomenon of family aggregation. There was significant difference in HP infection between children with recurrent abdominal pain and their second degree relatives, and the HP infection rate tended to increase with the increase of age. At the loci of HLA-DRBl1 040101 and HLA-DQAl040101, the infection rate of HP increased with age. There were immunogenetic differences between HP positive members and HP negative members in the family. That is to say, HLA-DRBlN 1204 / 14727 / 1534 and HLA-DQAll040101 / 040102 may be the protective gene for HP infection. Whether HLA-DRB1ON09 is a gene associated with abdominal pain in host after HP infection needs to be further studied. HLA-DQAln0302 may be a pathogenic gene causing recurrent abdominal pain in host after HP infection.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.7

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