呼吸窘迫综合征早产儿肺表面活性蛋白B基因内含子4变异的意义  

Significance of genetic variants in intron 4 of the surfactant protein B gene of preterm infants with neonatal respiratory distress syndrome

作　　者：丁再萌[1] 陈玉君[1] 

机构地区：[1]广西医科大学第一附属医院儿科,南宁530021

出　　处：《中华实用儿科临床杂志》2013年第2期122-123,共2页Chinese Journal of Applied Clinical Pediatrics

基　　金：广西自然科学基金（2011GXNSFA018202）

摘　　要：目的探讨肺表面活性蛋白B（SP—B）内含子4变异与早产儿呼吸窘迫综合征（NRDS）发病的关系。方法采用1：1病例对照研究方法，选择52例NRDS早产儿（病例组）和52例同期住院的同性别且胎龄接近的非NRDS早产儿（对照组）作为研究对象。入院后1周内各研究对象抽取静脉血2mL，应用DNA提取试剂盒提取基因组DNA，应用PCR方法扩增SP-B内含子4序列中含有保守序列（motif）及其之间含（CA）n重复结构的区域，并通过琼脂糖电泳判读扩增结果。结果病例组和对照组均在550bp处见到目的条带，其中4例（3例NRDS及1例非NRI^S）除目的条带外还可见到1条大于目的条带（约650bp）的扩增产物，提示为SP—B内含子4序列发生了插入突变。病例组及对照组SP—B内含子4变异的发生率分别为5．77％和1．92％，2组比较差异有统计学意义（X2=44．18，P〈0．05）。结论SP—B基因内含子4的变异可能与早产儿NRDS发病有一定的关系。Objective To explore the association between genetic variants in intron 4 of the surfactant protein B （SP-B） gene and neonatal respiratory distress syndrome （NRDS） in preterm infants. Methods Using 1 ： 1 case-control study method, a cohort of 52 preterm infants with NRDS and 52 preterm infants without NRDS（non-NRDS） were re- cruited. Within 1 week after the patients hospitalized,2 mL venous blood was collected. Genomic DNA was extracted and polymerase chain reaction（PCR） was performed to amplify the special region with conserved sequence motifs and intermotif dinucleotide repeats（CA） n in intron 4 of SP-B gene. PCR products was demonstrated by agarose gel electrophoresis and variants were identified by product size. Results A 550 bp target band could be seen in all PCR products （including NRDS group and non-NRDS group）. Besides, an additional band（ about 650 bp） could be seen in 3 cases of NRDS and 1 case of non-NRDS ,which represented insertion variation. The variation incidence of imron 4 of SP-B gene in NRDS group and non-NRDS group were 5.77% and 1. 92% , respectively, there was significant differences（X^2 = 44. 18, P 〈 0.05 ）. Conclusion Genetic variants in intron 4 of SP-B gene may contribute to risk of preterm infants with NRDS.

关 键 词：表面活性蛋白B 基因变异 新生儿呼吸窘迫综合征 婴儿 早产 

分 类 号：R722[医药卫生—儿科]