CAJ | 학술논문

目的了解支气管肺发育不良( bronchopulmonary dysplasia,BPD)患儿肺表面活性蛋白-B(surfactant protein-B,SP-B)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％ (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),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.
목적 료해지기관폐발육불량( bronchopulmonary dysplasia,BPD)환인폐표면활성단백-B(surfactant protein-B,SP-B)내함자4기인다태성적개변. 방법 대2008년7월지2011년7월재화중과기대학동제의학원부속동제의원신생인중증감호병방수치적45례BPD환인(BPD조)채용취합매련반응기술、경지당응효전영분리이급극륭측서법행SP-B내함자4편단장도다태성검측,병이무폐부질병적99례환인위대조(대조조),분석기등위기인[야생등위기인、변이등위기인(삽입등위기인화결실등위기인)]빈솔화기인형[야생형、변이형(삽입형화결실형)]빈솔재2조간적차이.연구결과채용량양본균수t검험혹x2검험진행통계학분석. 결과 BPD조여대조조야생등위기인빈솔분별위83.3％(75/90)화91.9％ (182/198),변이등위기인빈솔분별위16.7％(15/90,기중삽입등위기인8례,결실등위기인7례)화8.1％(16/198,기중삽입등위기인8례,결실등위기인8례),2조비교차이유통계학의의(x2 =4.75,P=0.029).BPD조기인형빈솔야생형위71.1％(32례),변이형위28.9％(13례,기중삽입형7례,결실형6례),대조조야생형위85.8％(85례),변이형위14.1％(공14례,삽입형6례,결실형8례),2조비교,차이유통계학의의(x2=4.42,P=0.036). 결론 BPD환인SP-B내함자4기인변이발생솔고,제시SP-B내함자4변이가능여BPD유전역감성상관.
Objective To investigate the change of gene polymorphorism of surfactant protein-B (SP-B) intron 4 in infants with bronchopulmonary 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 (28.9 ％,13/45,including seven cases insertions and six cases deletions) variant genotypes; 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.