本文選題：家族　切入點(diǎn)：腹痛　出處：《昆明醫(yī)科大學(xué)》2012年碩士論文　論文類(lèi)型：學(xué)位論文

【摘要】：目的：了解反復(fù)腹痛患兒及其家族成員中幽門(mén)螺桿菌(Helicobacter pylori, Hp)感染的情況以及家族內(nèi)Hp亞型的分布。研究患兒及其家族成員人類(lèi)白細(xì)胞抗原(HLA)一DRBl、DQA、DQBl等位基因頻率的分布,探討患兒及其家族中HLA—DRBl.DQAl.DQBl基因位點(diǎn)上是否存在導(dǎo)致Hp感染的相關(guān)基因及Hp感染后出現(xiàn)反復(fù)腹痛癥狀的相關(guān)基因。 方法：應(yīng)用免疫印跡法對(duì)41個(gè)家庭196名成員進(jìn)行Hp抗體亞型的檢測(cè)。將其分為Hp陽(yáng)性組與Hp陰性組。再將Hp陽(yáng)性成員分為Hp感染后有腹痛癥狀組和Hp感染后無(wú)腹痛組。用聚合酶鏈反應(yīng)-序列特異性引物(PCR—SSP)方法對(duì)所有家庭成員進(jìn)行HLA—DRBl、DQAl、DQBl基因分型檢測(cè)。 結(jié)果：反復(fù)腹痛患兒家族中免疫印跡Hp亞型抗體陽(yáng)性率87.2%,其中工型Hp感染占57.7%,Ⅱ型Hp感染占29.6%。Hp感染陽(yáng)性率在患兒與二級(jí)親屬之間存在差異(P0.05)。家族成員患Hp感染性胃腸道疾病有家庭聚集現(xiàn)象。家族中Hp陽(yáng)性組成員HLA—DRBl*1204、*14、*1527，，1534的基因頻率明顯低于Hp陰性組,兩組比較存在顯著性差異(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陽(yáng)性組成員HLA—DQAl*040101、*040102的基因頻率明顯低于Hp陰性組的家族成員,兩組比較存在顯著性差異(1%vs9%,x2=11.791, P=0.001,PcO.05；0%vs9%,x2=18.032,P=0.000,Pc0.05)。Hp感染后家族成員中有反復(fù)腹痛癥狀組HLA—DRBl*09的基因頻率高于Hp感染后無(wú)腹痛組,但經(jīng)等位基因多項(xiàng)比較校正后差異消失(12%vs3%, x2=8.555, P=0.003, Pc=0.0540.05)。而Hp感染后家族成員中有反復(fù)腹痛癥狀組HLA—DQAl*0302的基因頻率明顯高于Hp感染后無(wú)腹痛組,兩組比較存在顯著性差異(14%vs3%, x3=11.272,P=0.001、Pc0.05).其它等位基因頻率比較差異無(wú)顯著性。結(jié)論：反復(fù)腹痛的患兒及家庭成員中Hp感染陽(yáng)性率高,部分患兒家庭內(nèi)感染Hp菌株相似,存在家庭聚集現(xiàn)象。反復(fù)腹痛患兒與二級(jí)親屬之間Hp感染則存在顯著差異,隨年齡增加Hp感染率有增高趨勢(shì)。在HLA-DRBl*1204、*14、*1527,1534及HLA—DQAl*040101、*040102位點(diǎn)上,家族中Hp陽(yáng)性成員與Hp陰性成員之間存在免疫遺傳學(xué)差異,即HLA—DRBl*1204、*14、*1527,1534及HLA—DQAl*040101、*040102可能是Hp感染的保護(hù)基因。HLA—DRB1*09是否是Hp感染后導(dǎo)致宿主出現(xiàn)腹痛的相關(guān)基因有待于進(jìn)一步研究。HLA—DQAl*0302可能是Hp感染后導(dǎo)致宿主出現(xiàn)反復(fù)腹痛癥狀的致病基因。
[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.
【學(xué)位授予單位】：昆明醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類(lèi)號(hào)】：R725.7

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