肺表面活性物质蛋白B、C基因变异与蒙古族早产儿呼吸窘迫综合征相关性研究被引量：13

Analysis of correlation of the mutation of pulmonary surfactant protein B and C gene with respiratory distress syndrome in premature infants in Mongolian

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摘要目的研究肺表面活性物质蛋白（SP）B、SP-C基因外显子4（exon4）区域基因变异与蒙古族早产儿呼吸窘迫综合征（RDS）的相关性。方法选择住院治疗的无血缘关系的蒙古族RDS早产儿50例（男31例,女19例）,同期、同民族和同群体中无血缘关系的非RDS早产儿50例为对照组（男27例,女23例）,分别用聚合酶链式反应（PCR）基因多态性分析和基因检测技术对SP-B、SP-C基因exon4区域基因进行测序,并比较两组患儿SP-B基因exon4区域1580位点基因变异及基因型频率、SP-C基因exon4区域c.571C 〉 A（T138N）位点基因变异及基因型频率的差异。结果检测出SP-B基因exon4区域1580位点基因变异,RDS组14例,变异率为28%,非RDS组11例,变异率为22%,两组差异无统计学意义（χ^2=0.480,P 〉 0.05）。RDS组1580位点CC、TT、CT基因型频率分别为16%、72%和12%,非RDS组则分别为10%、78%和12%;RDS组C等位基因频率为22%、T等位基因频率为78%,非RDS组则分别为16%、84%;两组间基因型频率差异无统计学意义（χ^2=1.170,P 〉 0.05）。检测出SP-C基因exon 4区域c.571 C 〉 A（T 138 N）位点基因变异,RDS组41例,变异率为82%,非RDS组6例,变异率为12%,两组间差异有统计学意义（χ^2 =49.177,P 〈 0.05）。RDS组c.571C 〉 A（T138N）位点CC、AA、AC三种基因型频率分别为18%、50%和32%,非RDS组分别为88%、8%和4%;RDS组C等位基因频率为34%、A等位基因频率为66%,非RDS组则分别为90%、10%,两组间A等位基因型频率的差异有统计学意义（χ^2=66.553,P 〈 0.05）。结论携带SP-C基因exon 4区域c.571 C 〉 A（T 138 N）位点A等位基因的蒙古族早产儿患RDS的风险更高,而SP-B基因exon 4区域1580位点基因变异与蒙古族早产儿发生RDS无关。 Objective To analyze the correlation of the mutations of exon 4 of pulmonary surfactant protein（SP）-B and SP-C with respiratory distress syndrome（RDS） in Mongolian premature infants. Methods Fifty cases of hospitalized genetically unrelated Mongolian premature infants with RDS（ 31 males, 19 females） were recruited as RDS group. In the same period, 50 cases（ 27 males, 23 females） of non RDS genetically unrelated premature infants of same ethnicity were choose as the control group. PCR and gene detection were used to detect exon 4 of SP-B and SP-C genes. The differences of the genovariation and genotype frequency of 1580 locus in exon 4 in SP-B, and of c. 571 C A（T 138 N） locus in exon 4 in SP-C were compared between two groups. Results The genovariation of 1580 locus in exon 4 in SP-B was detected in 14 cases（with aberration rate of 28%） in RDS group and in 11 cases（with aberration rate of 22%） in control group, and the difference is not significant between two groups（χ^2=0.480, P〈0.05）. The genotype frequency of CC, TT and CT gene in 1580 locus were 16%, 72%, and 12 % respectively in RDS group; and 10 %, 78 %, and 12 % respectively in control group. Meanwhile, the C and T gene frequency was 22 % and 78 % respectively in RDS group, and 16 % and 84 % in control group. There was no significant difference in genotype frequency between two groups（χ^2=1.170, P〈0.05）. The genovariation of c.571 C A（T138N） locus in exon4 in SP-C was detected in 41 cases（with aberration rate of 82%） in RDS group and in 6 cases（with aberration rate of 12%） in controlgroup, and the difference is significant between the two groups（χ^2=49.177, P〈0.05）. The genotype frequency of CC, AA and AC gene in c. 571 C A（T 138 N） locus were 18 %, 50 %, and 32 % respectively in RDS group; and 88 %, 8 %, and 4 % in control group. Meanwhile, the C and A gene frequency was 34% and 66% respectively in RDS group, and 90% and 10% in control group. There was a significant difference in A gene frequency between the two groups（χ^2=66.553, P〈0.05）. Conclusions Mongolian premature infants who carry A allelic of c. 571 C A（T 138 N） locus in exon 4 in SP-C gene were in a higher risk of RDS. The mutation of 1580 locus in exon 4 in SP-B had no correlation with Mongolian premature RDS.

作者新春梅花刘春枝张亚昱刘春丽宋丹

机构地区内蒙古医科大学附属医院

出处《临床儿科杂志》 CAS CSCD 北大核心 2016年第9期645-650,共6页 Journal of Clinical Pediatrics

基金国家自然科学基金资助项目(No.81260107) 内蒙古自治区自然科学基金资助项目(No.2011MS1111)

关键词肺表面活性物质蛋白呼吸窘迫综合征基因变异蒙古族早产儿 pulmonary surfactant respiratory distress syndrome genovariation Mongolian premature

分类号 R722.6 [医药卫生—儿科]

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