肺表面活性物质蛋白-C基因186位点多态性与内蒙古地区蒙古族与汉族新生儿呼吸窘迫综合征相关性分析

目的：研究肺表面活性物质蛋白( surfactant protein，SP)-C基因多态性，以186位点为重，研究内蒙古地区蒙古族与汉族新生儿呼吸窘迫综合征( respiratory distress syndrome of newborn， NRDS)的相关性，分析两族是否具有基因位点差异性。方法选择151例NRDS患儿( NRDS组)与151例正常新生儿(对照组)作为研究对象，应用PCR及基因分析技术检测186位点，分析其多态性与NRDS的关系。结果在内蒙古地区，不论蒙古族还是汉族，SP-C基因186位点基因型均可检出3种基因型：即AA、AG及GG型。其中，蒙古族NRDS组和对照组患儿此3种基因型频率分别为：19.6％、33.3％、47.1％和23.5％、27.5％、49.0％，NRDS组和对照组A等位基因频率分别为36.3％和37.3％， G等位基因频率分别为63.7％和62.7％。汉族 NRDS 患儿和对照组此3种基因型频率分别为：14.0％、28.0％、58.0％和10.0％、30.0％、60.0％， NRDS 组和对照组患儿 A 等位基因频率分别为28.0％和25.0％，G等位基因频率分别为72.0％和75.0％。内蒙古地区蒙古族与汉族NRDS患儿SP-C基因型及等位基因频率在不同性别、出生体重、胎龄、分娩方式等中无明显关联( P>0.05)。对比蒙古族与汉族NRDS患儿在SP-C基因186位点上基因型和等位基因分布，并未发现SP-C基因186位点多态性具有种族上的统计学差异( P>0.05)。结论内蒙古地区NRDS患儿SP-C 186位点基因多态性无明显的种族相关性。

Correlation analysis between surfactant protein-C 186 site gene polymorphisms and neonatal respiratory distress syndrome of the Han nationality and the Mongol nationality in Inner Mongolia Region

Objective To analyze the relationship between the surfactant protein ( SP )-C 186 site gene polymorphisms and neonatal respiratory distress syndrome( NRDS) in the Han nationality and the Mon-gol nationality in Inner Mongolia Region, and to analyze the difference between these two nations in gene sites. Methods One hundred and fifty-one infants with NRDS ( NRDS group ) and 151 infants without NRDS( control group) were selected to analyze the relationship between SP-C 186 site gene polymorphisms and NRDS. PCR gene analysis and polymerase chain reaction were used to establish the genotype of SP-C 186 site. Results Either in the Mongol nationality and Han nationality,three genotypes were detectable in SP-C 186 site:namely AA,AG and GG. In the Mongol nationality,the frequencies of genotype AA,AG,GG of SP-C exon 5 ( S186N) in NRDS group and control group were 19. 6%,33. 3%,47. 1% and 23. 5%, 27. 5%,49. 0%,respectively. In these two groups,the frequencies of allele A were 36. 3% and 37. 3%,and the frequencies of allele G were 63. 7% and 62. 7%. In the Han nationality,the frequencies of genotype AA, AG,GG of SP-C exon 5 ( S186N) in NRDS group and control group were 14. 0%,28. 0%,58. 0% and 10. 0%,30. 0%,60. 0%,respectively. It was found that in these two groups,the frequencies of allele A were 28. 0% and 25. 0%,and the frequencies of allele G were 72. 0% and 75. 0%. SP-C gene polymorphism in NRDS newborns displayed no significant correlation with sex,birth weight,gestational age or delivery mode in the Mongol nationality and Han nationality in Inner Mongolia ( P>0. 05 ) . Comparing the distribution of genotype and allele of SP-C 186 site in NRDS infants of Mongol nationality and Han nationality,there was no statistically significant difference in the 186 polymorphisms of the SP-C gene between these two nationalities. Conclusion There is no significant correlation of SP-C gene polymorphism in NRDS newborns in different ethnic populations in Inner Mongolia area.