Analysis of correlation of the mutation of pulmonary surfactant protein B and C gene with respiratory distress ;syndrome in premature infants in Mongolian / 临床儿科杂志

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 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.