本文選題：肺表面活性物質(zhì)相關(guān)蛋白質(zhì)B　切入點(diǎn)：內(nèi)含子　出處：《華中科技大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的探討肺表面活性蛋白B(surfactant protein B, SP-B)內(nèi)含子4基因片段長(zhǎng)度多態(tài)性與支氣管肺發(fā)育不良(bronchopulmonary dysplasia, BPD)遺傳易感性的關(guān)系。 方法對(duì)2008年7月至2011年7月在華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬同濟(jì)醫(yī)院新生兒重癥監(jiān)護(hù)病房（neonatal intensive care unit, NICU）收治的45例BPD患兒（BPD組）采用聚合酶鏈反應(yīng)（polymerase chain reaction, PCR）技術(shù)、瓊脂糖凝膠電泳分離以及克隆測(cè)序法進(jìn)行SP-B內(nèi)含子4片段長(zhǎng)度多態(tài)性（intron4lengthvariation, i4）檢測(cè)，并以無(wú)肺部疾病的99例患兒為對(duì)照（對(duì)照組），分析其等位基因[野生等位基因、變異等位基因（插入等位基因和缺失等位基因）]頻率和基因型[野生型、變異型（插入型和缺失型）]頻率在兩組間的差異。研究結(jié)果采用兩樣本均數(shù)t檢驗(yàn)或χ~2檢驗(yàn)進(jìn)行統(tǒng)計(jì)學(xué)分析。 結(jié)果BPD組與對(duì)照組的野生等位基因頻率分別為83.3%（75/90）和91.9%(182/198)，變異等位基因頻率分別為16.7%（15/90，其中插入等位基因8例，缺失等位基因7例）和8.1%(16/198，其中插入等位基因8例，缺失等位基因8例)，兩組比較差異有統(tǒng)計(jì)學(xué)意義（χ~2=4.75， P0.05）。BPD組的基因型頻率：野生型為71.1%（32例），變異型為28.9%（13例，其中插入型7例，缺失型6例），對(duì)照組：野生型為85.8%（85例），變異型為14.2%（14例，插入型6例，缺失型8例），兩組比較差異有統(tǒng)計(jì)學(xué)意義（χ~2=4.42, P0.05）。 結(jié)論BPD患兒SP-B內(nèi)含子4基因變異發(fā)生率高，提示SP-B內(nèi)含子4片段長(zhǎng)度多態(tài)性可能與BPD遺傳易感性相關(guān)。
[Abstract]:Objective to investigate the relationship between gene fragment length polymorphism of intron 4 of lung surfactant protein B (SP-B) and genetic susceptibility of bronchopulmonary dysplasia (BPDs). Methods from July 2008 to July 2011, 45 patients with BPD in the neonatal intensive care unit of Tongji Hospital affiliated to Tongji Medical College, Huazhong University of Science and Technology, were treated with polymerase chain reaction (PCR) technique. The intron 4 fragment length polymorphism (i4) of SP-B was detected by agarose gel electrophoresis and clone sequencing. 99 children without pulmonary disease were selected as control group (control group), and their alleles [wild alleles] were analyzed. Frequency of variant alleles (insert allele and deletion allele) and genotype [wild type]. The difference of the frequency of variant (insertion type and deletion type) between the two groups. The results of the study were statistically analyzed by two sample mean t test or 蠂 2 test. Results the frequencies of wild alleles in BPD group and control group were 83.3 / 90) and 91.9% / 182 / 1980.The frequencies of variant alleles were 16.775 / 90, in which 8 cases were inserted alleles, 7 cases were deleted alleles) and 8 cases were inserted alleles, among which 8 cases were inserted alleles. There were significant differences in genotype frequencies between the two groups (蠂 ~ 24.75, P 0.05A 路bpd): wild type was 71.1%, variant was 28.99C in 13 cases, insertion type was 7 cases, deletion type was 6 cases, control group: wild type was 85.88 cases, variant was 14.22%. There were 6 cases of insertion type and 8 cases of deletion type. The difference between the two groups was statistically significant (蠂 2 + 4.42, P 0.05). Conclusion the high incidence of SP-B intron 4 gene mutation in children with BPD suggests that the SP-B intron 4 fragment length polymorphism may be associated with the susceptibility of BPD.
【學(xué)位授予單位】：華中科技大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R725.6

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本文編號(hào)：1593392