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 < 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 signiifcant difference in A gene frequency between the two groups (χ2=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.%目的：研究肺表面活性物质蛋白（SP）B、SP-C基因外显子4（exon 4）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exon 4区域基因进行测序，并比较两组患儿SP-B基因exon 4区域1580位点基因变异及基因型频率、SP-C基因exon 4区域c.571 C > A（T 138 N）位点基因变异及基因型频率的差异。结果检测出SP-B基因exon 4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（χ2 =49.177，P < 0.05）。RDS组c.571 C > A（T 138 N）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 < 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。
展开▼
