RESUMEN
Objective To study the correlation between pulmonary surfactant protein C exon5 area's gene polymorphism and the premature infants with respiratory distress syndrome (RDS) among Mongolian and Han ethnic in Inner Mongolia District. Methods Fifty unrelated Mongolian RDS premature infants (28 weeks ≤ gestational age <37 weeks) were recruited as study group (31 male and 19 female), and another 50 unrelated Han ethnic RDS premature infants (28 weeks ≤ gestational age<37 weeks) were enrolled at the same time, as control group (27 male and 23 female).Polymerase chain reaction was used for gene polymorphism analysis and gene detection technology was employed to determine the sequence of SP-C gene exon5 area, respectively. At last, the difference in genotype frequency of SP-C gene exon 5 area C. 715G>A(S186 N) was compared between two groups. Results There were three genotypes could be checked out from SP-C gene exon 5 area C. 715G>A(S 186N)locus; namely GG,AA,AG types, and in study group, genotype frequencies of these three genotypes were 28％, 62％ and 10％, respectively, and G allele frequency was 33％, and A allele frequency was 67％. Genotype frequencies in control group were 78％, 10％ and 12％, respectively, and G allele frequency was 84％, A allele frequency was 16％. The A allele genotype frequency in study group at SP-C exon 5 area C. 715G>A(S186N) significantly higher than that in control group. There was statistically significant difference in alleles variations between two groups (χ2 = 53.300, P＜ 0.05). Conclusions SP-C exon 5 area C. 715G>A(S 186N)locus polymorphism related to Inner Mongolia Mongolian premature RDS. Individuals carrying SP-C exon 5 area C. 715G>A (S186N) A alleles have higher risk of suffering from RDS.
RESUMEN
Objective To investigate the association of the Cx37 polymorphism of connexin gene with essential hyper?tension (EHT) in Xinjiang Han and Kazak population. Methods In Xinjiang region, 500 EHT patients (EHT group) were in?cluded in this study including Kazak 250 cases and Han 250 cases. Five hundred healthy volunteers (NT) were used as NT group including Kazak 250 cases and Han 250 cases. The values of age, body mass index (BMI), systolic blood pressure (SBP) and diastolic blood pressure (DBP), and other general clinical features were compared between two groups. The poly?morphism of Cx37 gene rs1630310, rs697372 and rs705193 SNP were compared between EHT and NT groups in the two eth?nic groups. Hardy-Weinberg equilibrium was used to detect the representation, and differences of genotype frequencies and gene frequency were calculated in two groups of Kazak and Han groups. Results There were significant differences in BMI, SBP, DBP, apolipoprotein ratios and homocysteine between EHT group and NT group in Kazak and Han groups (P0.05). The differences of Kazak rs1630310 genotype and gene frequency were statistically significant (P0.05), but the difference of gene frequen?cy was statistically significant (P<0.05). There were no significant differences in rs1630310 and rs697372 locus genotype and gene frequency in two groups of Han group. Conclusion Cx37 gene polymorphism is associated with the occurrence of EHT in Xinjiang Kazak population, which may be related with the rs1630310 and rs697372 polymorphism.