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蒙古族极早产儿呼吸窘迫综合征与(rs1059057)基因多态性的关系研究

Study on the Relationship Between Respiratory Distress Syndrome and (rs1059057) Gene Polymorphism in Mongolian Very Premature Infants.

作者信息

Wang Xiaoli, Zhang Yuheng, Mei Hua, An Caiyan, Liu Chunzhi, Zhang Yayu, Zhang Yanbo, Xin Chun

机构信息

Division of Neonatology, Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.

Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot, China.

出版信息

Front Pediatr. 2020 Mar 17;8:81. doi: 10.3389/fped.2020.00081. eCollection 2020.

Abstract

To study the relationship between rs1059057 polymorphism of pulmonary surfactant protein A1 (SP-A1) and respiratory distress syndrome (RDS) in Mongolian very premature infants. Applying the strategy of case-control study, 120 Mongolian RDS very premature infants (58 males and 62 females) in the western part of Inner Mongolia were selected as the case group, and 120 subjects of non-RDS very premature infants (56 males and 64 females) with the same nationality, same sex and similar gestational age were used as the control group. The single nucleotide polymorphism (SNP) site rs1059057 of was genotyped using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP). Two genotypes, and , were detected at the rs1059057 locus in the western part of Inner Mongolia. In the case group, the frequencies of two genotypes were 53 and 47%, and the frequencies of allele and allele were 73 and 27%, respectively. In the control group, the frequencies of the two genotypes were 42 and 58%, and the frequencies of allele and allele were 79 and 21%, respectively. There was no significant difference in the genotype frequency of (rs1059057) locus between the case group and the control group ( = 3.275, > 0.05), and no significant difference in allele frequency between the case group and the control group ( = 2.255, > 0.05). The genotypes and allele frequencies of (rs1059057) locus were not associated with the incidence of RDS in Mongolian very premature infants in western Inner Mongolia.

摘要

研究内蒙古西部蒙古族极早产儿肺表面活性物质蛋白A1(SP-A1)基因rs1059057多态性与呼吸窘迫综合征(RDS)的关系。采用病例对照研究策略,选取内蒙古西部120例蒙古族RDS极早产儿(男58例,女62例)作为病例组,选取120例同民族、同性别的同胎龄非RDS极早产儿(男56例,女64例)作为对照组。采用聚合酶链反应-单链构象多态性(PCR-SSCP)技术对SP-A1基因的单核苷酸多态性(SNP)位点rs1059057进行基因分型。在内蒙古西部rs1059057位点检测到两种基因型。病例组中,两种基因型频率分别为53%和47%,A等位基因和G等位基因频率分别为73%和27%。对照组中,两种基因型频率分别为42%和58%,A等位基因和G等位基因频率分别为79%和21%。病例组与对照组rs1059057位点基因型频率比较差异无统计学意义(χ² = 3.275,P > 0.05),等位基因频率比较差异也无统计学意义(χ² = 2.255,P > 0.05)。内蒙古西部蒙古族极早产儿SP-A1基因(rs1059057)位点的基因型及等位基因频率与RDS的发生无相关性。

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Surfactant protein A: A key player in lung homeostasis.表面活性蛋白A:肺内稳态的关键参与者。
Int J Biochem Cell Biol. 2016 Dec;81(Pt A):151-155. doi: 10.1016/j.biocel.2016.11.003. Epub 2016 Nov 9.
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Respiratory distress in the newborn.新生儿呼吸窘迫
Pediatr Rev. 2014 Oct;35(10):417-28; quiz 429. doi: 10.1542/pir.35-10-417.

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