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

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(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(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。

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

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 signiifcant 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. 571 C?>?A (T 138 N) locus in exon 4 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 signiifcant between the two groups (χ2=49 . 177 , P??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 signiifcant difference in A gene frequency between the two groups (χ2=66 . 553 , P??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.