Study on the relationship between synonymous mutation of ABCA3 gene and neonatal respiratory distress syndrome of mongolian and han nationality in inner mongolia
10.3760/cma.j.issn.1671-0282.2021.06.005
- VernacularTitle:ABCA3基因同义突变与内蒙古地区蒙汉族新生儿呼吸窘迫综合征的相关性研究
- Author:
MengYue HUO
1
;
Hua MEI
;
Yuheng ZHANG
;
Yanbo ZHANG
;
Xiaomei CAO
;
Chunzhi LIU
;
Yanan HU
Author Information
1. 内蒙古医科大学附属医院新生儿科，呼和浩特 010050
- Keywords:
Neonatal;
Respiratory distress syndrome;
ABCA3 gene;
Synonymous mutation;
Susceptibility gene;
Mongolian nationality;
Han nationality;
Gene polymorphism
- From:
Chinese Journal of Emergency Medicine
2021;30(6):671-676
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate whether the synonymous variation of the ATP-binding cassette transporter A3 (ABCA3) gene may increase the risk of respiratory distress syndrome (RDS) in Mongolian and Han newborns in Inner Mongolia.Methods:From January 2018 to June 2019, the children of Mongolian and Han nationality who were hospitalized in the Department of Neonatal Pediatrics, affiliated Hospital of Inner Mongolia Medical University and the control group were sequenced by ABCA3 exon gene to analyze whether there was synonymous mutation in ABCA3 gene.Results:A total of 101 children with RDS were enrolled, including 37 children with Mongolian and 64 with Han children. There were 113 patients in the control group, including 45 Mongolian children and 68 Han children. Children with Mongolian and Han nationality RDS and control group can detect multiple synonymous mutation sites, such as: F353F, P585P, A227A, V150V, L982L, A928A, S1372S, P1653P, E1618E, and A1027A, etc, among them, four synonymous variants of p.A227A, p.F353F, p.P585P and p.S1372S are common synonymous mutants. In both Mongolian and Han nationality, the frequency of ABCA3 gene synonymous mutation in RDS group was significantly higher than that in control group (Mongolian: χ2=9.402, P=0.002; Han: χ2=9.348, P=0.002 ). The mutation rates of F353F and P585P in Mongolian and Han children with RDS were higher than those in the control group, and the difference was statistically significant(Mongolian F353F: χ2=5.270, P=0.022; Han F353F: χ2=5.532, P=0.019.Mongolian P585P: χ2=4.711, P=0.030; Han P585P: χ2=4.480, P=0.034). Conclusions:The synonymous variation of ABCA3 gene may increase the risk of RDS in Mongolian and Han newborns in Inner Mongolia, and F353F and P585P may be one of the susceptible genes of RDS in Mongolian and Han newborns in Inner Mongolia.
