蒙古族早产儿呼吸窘迫综合征与SP-A1 rs1059047、rs1136450位点基因多态性相关性研究

Correlation between polymorphisms of surfactant protein A1 rs1059047 and rs1136450 and respiratory distress syndrome in Mongolian premature infants

目的研究肺表面活性物质蛋白A1(pulmonary surfactant protein A1,SP-A1)rs1059047、rs1136450位点基因多态性与蒙古族早产儿呼吸窘迫综合征(respiratory distress syndrom,RDS)的相关性。方法采用病例对照研究方法,以内蒙古西部地区蒙古族RDS早产儿50例(男33例,女17例)为病例组,以同民族、同性别、胎龄相近的非RDS早产儿50例(男29例,女21例)为对照组,应用聚合酶链式反应-单链构象多态性基因检测技术(polymerase chain reaction,single-strand conformation polymorphism,PCR-SSCP)对SP-A1单个核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs1059047、rs1136450)和等位基因单倍体(6A、6A2、6A3)进行检测。结果病例、对照组rs1059047位点均可检测出3种基因型CC、TT、CT,均以TT基因型为主,2组间此位点基因型频率差异无统计学意义(χ^2= 1.429,P>0.05);病例、对照组rs1136450位点均可检测出2种基因型CG、GG,均以CG基因型为主;2组间此位点基因型频率差异无统计学意义(χ^2= 1.624,P>0.05);SP-A1等位基因单倍体6A、6A2、6A3的分布频率在RDS组分别为36%、68%、42%;在对照组分别为62%、46%、50%。2组间等位基因单倍体6A3频率差异无统计学意义(χ^2=0.502,P>0.05);而2组间等位基因单倍体6A、6A2频率差异有统计学意义(χ^2=6.763、4.937,P<0.05)。结论SP-A1 (SNP)位点(rs1059047、rs1136450)等位基因及等位基因频率与蒙古族早产儿发生RDS无关;然而SP-A1等位基因单倍体6A2为蒙古族早产儿发生RDS的易感基因,单倍体6A为保护基因。

Objective To study the correlation between polymorphisms of surfactant protein A1 rs1059047 and rs1136450 and respiratory distress syndrome (RDS) in Mongolian premature infants in Inner Mongolia. Methods Totally 50 Mongolian RDS premature infants in our ward were recruited as the case group (33 males and 17 females), and another 50 Mongolian non-RDS premature infants with same ethnicity, same sex and gestational age were served as the control group (29 males and 21 females). Single nucleotide polymorphisms of SP-A1 rs1059047 and, rs1136450 and allele haploids (6A, 6A2, and 6A3) were detected by polymerase chain reaction-single strand conformation polymorphism gene detection technology and were compared between the case and control groups. Results Three genotypes, CC, TT, CT were detected in the case and control groups at rs1059047, all of which were mainly TT genotype. There was no significant difference in genotype frequency between the two groups (χ^2=1.429, P > 0. 05). Two genotypes, CG and GG, were detected in the case and control groups at rs1136450, and CG was the dominant genotype. There was no significant difference in genotype frequency between the two groups (χ^2= 1.624, P>0.05). The distribution frequency of SP-A1 allele haploids (6A, 6A2, 6A3) in the case group was 36%, 68% and 42%, respectively, and 62%, 46% and 50% in the control group, respectively. There was no significant difference in the frequency of allele haploid 6A3 between the two groups (χ^2=0.502, P>0.05);but there was a significantly difference in the frequency of allele haploids (6A, 6A2) between the two groups (χ^2=6.763, 4.937, P<0.05). ConclusionsThe alleles and allele frequency of SP-A1 (rs1059047, rs1136450) were not associated with RDS in Mongolian premature infants. However, SP-A1 allele haploid 6A2 is the susceptible gene for RDS in Mongolian premature infants, and haploid 6A is the protective gene.