内科2017，Vol.12Issue(2)：168-170,3.DOI:10.16121/j.cnki.cn45-1347/r.2017.02.07
ABCA3基因突变与早产儿呼吸窘迫综合征关系的研究
Study on the relationship between ABCA3 gene mutation and respiratory distress syndrome in preterm infants
摘要
Abstract
Objective To study the relationship between ATP-binding cassette transporter A3 (ABCA3) gene mutation and respiratory distress syndrome in preterm infants.Methods A total of 207 cases of preterm infants were recruited as the research objects, including 123 respiratory distress syndrome (RDS) and 84 non-RDS.Sequenom′s Mass Array methods was used to analyzed the genotype of the three mutation (G205R, G668D, G1608C) in ABCA3 gene.Results None of mutation (GA、GA、GT)was found in RDS group(123 cases)and non-RDS group(84 cases), the genotype of G205R, G668D, G1608C were GG, GG, GG, respectively.Conclusions The mutation frequency of G205R, G668D, G1608C in ABCA3 gene is quite rare and the rate is low in preterm infants.Thus, there is not enough evidence to prove that the ABCA3 gene mutation is the risk for RDS in preterm infants.关键词
呼吸窘迫综合征/早产儿/ABCA3基因/基因突变Key words
Respiratory distress syndrome/Preterm infant/ABCA3 gene/Mutation分类
医药卫生引用本文复制引用
宁辛未,韦秋芬,张树英,唐尚英,张艳明,陈秀奇,陈玉君..ABCA3基因突变与早产儿呼吸窘迫综合征关系的研究[J].内科,2017,12(2):168-170,3.基金项目
吴阶平医学基金 (320.6750.14162) （320.6750.14162）
