中文摘要：

目的了解支气管肺发育不良（bronchopulmonarydysplasia，BPD）患儿肺表面活性蛋白-B（surfactantproteinB，SPB）内含子4基因多态性的改变。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收治的45例BPD患儿（BPD组）采用聚合酶链反应技术、琼脂糖凝胶电泳分离以及克隆测序法行SP—B内含子4片段长度多态性检测，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2组间的差异。研究结果采用两样本均数t检验或X2检验进行统计学分析。结果BPD组与对照组野生等位基因频率分别为83．3％（75／90）和91．9％（18e／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），2组比较差异有统计学意义（x2=4．75，P=0．029）。BPD组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14．1％（共14例，插入型6例，缺失型8例），2组比较，差异有统计学意义（x2=4．42，P=0．036）。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变异可能与BPD遗传易感性相关。

英文摘要：

Objective To investigate the change of gene polymorphorism of surfactant protein-B （SP-B） intron 4 in infants with bronehopulmonary dysplasia （BPD）. Methods Forty-five infants with BPD （BPD group） and ninety-nine infants without lung diseases （control group） who admitted into Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from July 2008 to July 2011 were selected into this study. Genotyping for fragment length polymorphism of SP-B intron 4 was performed by polymerase chain reaction （PCR）, agarose gel electrophoresis, cloning and sequencing methods in both groups. Differences of allele frequencies （invariant allele and variant allele） and genotype frequencies （invariant genotype and variant genotype） between BPD group and control group were analyzed. The differences of gestational age and birth weight between the two groups were compared with Independent-Samples t test. The gender composition and differences of allele or genotype frequencies between the two groups were compared with Chi-square test. Results Invariant allele frequencies in BPD group and control group were 83.3% （75/90） and 92.0% （182/198）, and variant allele frequencies were 16.7% （15/90, including eight insertion alleles and seven deletion alleles） and 8.1% （16/198, including eight insertion alleles and eight deletion alleles）. There were significant differences between the two groups （x2 =4.75, P=0. 029）. In BPD group,there were 32 cases （71.1%, 32/45） invariant genotypes and 13 cases （28.9G, 13/45, including seven cases insertions and six cases deletions） variant genotypesl in the control group, there were 85 cases invariant genotypes （85.8%, 85/99） and 14 cases （ 14.1%,14/99, six insertions and eight deletions） variant genotypes. Significant difference was found between the two groups （x2= 4.42, P=0. 036）. Conclusions Variations of SP-B intron 4 were more in BPD infants, and the variation of SP-B intron 4 might be associated with BPD.