临床儿科杂志 ›› 2016, Vol. 34 ›› Issue (9): 645-.doi: 10.3969/j.issn.1000-3606.2016.09.002

• 围产新生儿疾病专栏 • 上一篇    下一篇

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

新春, 梅花, 刘春枝, 张亚昱, 刘春丽, 宋丹   

  1. 内蒙古医科大学附属医院（内蒙古呼和浩特 010050）
  • 收稿日期:2016-09-15 出版日期:2016-09-15 发布日期:2016-09-15
  • 通讯作者: 梅花 E-mail:meihuayani@sina.com
  • 基金资助:
     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）

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

 XIN Chun, MEI Hua, LIU Chunzhi, ZHANG Yayu, LIU Chunli, SONG Dan   

  1. Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medicine University, Hohhot 010050, Inner Mongolia, China
  • Received:2016-09-15 Online:2016-09-15 Published:2016-09-15

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摘要： 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 （χ2 = 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（χ2 = 1.170， P?>?0.05）。 检测出SP-C基因exon4区域c.571C?>?A（T138N）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（χ2?= 49.177， P??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（χ2 = 66.553， P??A（T138N）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exon4区域1580位点基因变异与蒙古族早产儿发生RDS无关。

Abstract: 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 exon4 of SP-B and SP-C genes. The differences of the genovariation and genotype frequency of 1580 locus in exon4 in SP-B, and of c.571C?>?A (T138N) locus in exon4 in SP-C were compared between two groups. Results The genovariation of 1580 locus in exon4 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 (χ2=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 (χ2=1.170, P?>?0.05). The genovariation of c.571C?>?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 control  group, and the difference is significant between the two groups (χ2=49.177, P??A (T138N) 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 (χ2=66.553, P??A (T138N) locus in exon4 in SP-C gene were in a higher risk of RDS. The mutation of 1580 locus in exon4 in SP-B had no correlation with Mongolian premature RDS.

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