肺表面活性蛋白B内含子4基因多态性与支气管肺发育不良易感性的关系

发布时间：2018-03-10 12:44

本文选题：肺表面活性物质相关蛋白质B　切入点：内含子　出处：《华中科技大学》2012年硕士论文　论文类型：学位论文

【摘要】：目的探讨肺表面活性蛋白B(surfactant protein B, SP-B)内含子4基因片段长度多态性与支气管肺发育不良(bronchopulmonary dysplasia, BPD)遗传易感性的关系。方法对2008年7月至2011年7月在华中科技大学同济医学院附属同济医院新生儿重症监护病房（neonatal intensive care unit, NICU）收治的45例BPD患儿（BPD组）采用聚合酶链反应（polymerase chain reaction, PCR）技术、琼脂糖凝胶电泳分离以及克隆测序法进行SP-B内含子4片段长度多态性（intron4lengthvariation, i4）检测，并以无肺部疾病的99例患儿为对照（对照组），分析其等位基因[野生等位基因、变异等位基因（插入等位基因和缺失等位基因）]频率和基因型[野生型、变异型（插入型和缺失型）]频率在两组间的差异。研究结果采用两样本均数t检验或χ~2检验进行统计学分析。结果BPD组与对照组的野生等位基因频率分别为83.3%（75/90）和91.9%(182/198)，变异等位基因频率分别为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)，两组比较差异有统计学意义（χ~2=4.75， P0.05）。BPD组的基因型频率：野生型为71.1%（32例），变异型为28.9%（13例，其中插入型7例，缺失型6例），对照组：野生型为85.8%（85例），变异型为14.2%（14例，插入型6例，缺失型8例），两组比较差异有统计学意义（χ~2=4.42, P0.05）。结论BPD患儿SP-B内含子4基因变异发生率高，提示SP-B内含子4片段长度多态性可能与BPD遗传易感性相关。
[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.
【学位授予单位】：华中科技大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.6

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