A study on the correlation between SP-C gene mutation in exon 5 area and respiratory distress syndrome in premature infants
10.3969/j.issn.1673-6710.2016.05.001
- VernacularTitle:SP-C 基因外显子5区域基因突变与早产儿呼吸窘迫综合征相关性研究
- Author:
Dan SONG
;
Hua MEI
;
Rong HONG
;
Yuheng ZHANG
;
Chunzhi LIU
;
Yayu ZHANG
- Publication Type:Journal Article
- Keywords:
Genes;
Mutation;
Pulmonary surfactant-associated protein C;
Respiratory distress syndrome,newborn;
Infant,premature
- From:Chinese Journal of Neonatology
2016;11(5):321-324
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the correlation between the surfactant protein C ( SP-C) gene mutation in exon 5 area and respiratory distress syndrome(RDS) in premature infants. Methods From January 2013 to January 2015, nonconsanguineous premature infants [28 weeks ≤gestational age(GA)< 37 weeks] of Han ethnicity with RDS admitted to our hospital were selected as the RDS group, and nonconsanguineous Han premature infants without RDS as the control group. SP-C gene exon 5 mutation were detected using the gene sequencing method. Results SP-C gene exon 5 region c. 715G > A heterozygous mutations were detected in 17 cases among 60 patients in the RDS group. The mutation frequency was 28. 3% . SP-C gene exon 5 region c. 715G > A heterozygous mutations were detected in 8 cases among 60 patients in the control group. The mutation frequency was 13. 3% . The mutation frequency in the RDS group was statistically significantly higher than the control group (χ2 = 4. 093,P =0. 043) . In RDS group, c. 715G > A heterozygous mutation had no significant correlation with RDS grades, oxygen therapy, pulmonary surfactant dose nor treatment outcome (P > 0. 05). Conclusions A correlation may be existed between SP-C gene exon 5 area c. 715G > A heterozygous mutation and RDS in premature infants.
