摘要
目的研究肺表面活性物质蛋白（surfactant protein，SP）-C基因多态性与内蒙古地区汉族新生儿期呼吸窘迫综合征（respiratory distress syndrome，RDS）的关系及SP—C基因第4、5外显子上是否有突变发生。方法应用PCR基因分析技术检测100例RDS患儿（病例组）与100例非RDS新生儿（对照组）候选基因SP—C外显子4（T138N）、5（S186N）多态性位点的基因型、等位基因分布及基因突变。结果在内蒙古地区汉族新生儿中，sP—c基因第4、5外显子上无突变发生；SP．C外显子4（T138N）位点基因型均可检出3种基因型：即AA、AC及CC型，此位点基因多态性汉族RDS组与汉族对照组相比差异无统计学意义（χ^2=0．744，P=0．689）。SP—C外显子5（S186N）位点基因型也可检出3种基因型：即AA、AG及GG型，此位点基因多态性汉族RDS组与汉族对照组相比差异无统计学意义（χ^2=0．770，P=0．681）。结论SP—C基因第4、5外显子上无突变发生。SP—C基因外显子4（T138N）、外显子5（S186N）位点基因多态性均未发现与内蒙古地区汉族RDS的发生有明显相关性。
Objective To investigate the relationship between single nucleotide polymorphisms of surfactant protein C （SP-C） gene and respiratory distress syndrome （RDS） in the Han nationality newborns in Inner Mongolia and whether there is a mutation occurs on SP-C gene exon 4 and 5. Methods One hundred newborns with RDS（ case group） and 100 newborns without RDS （control group） were selected. PCR gene analysis was used to establish the genotype and allele frequencies of exon 4（T138N） and 5 （S186N） on SP-C. Results In the Han nationality newborns of Inner Mongolia region, there was no mutation on SP-C gene exon 4 and 5. Exon 4 （T138N） on SP-C could be checked out three genotypes： namely AA, AC and CC. The genetic polymorphisms of exon 4 on SP-C were not statistically different between the case group and the control group （χ^2 = 0. 744, P = 0. 689）. Besides, exon 5 （S186N） on SP-C could also be checked out three genotypes ： namely AA, AG and GG. The genetic polymorphisms of exon 5 on SP-C were also not statistically different between the case group and the control group （χ^2 = 0. 770, P = 0. 681 ）. Conclusion There is no mutation on SP-C gene exon 4 and 5. The genetic polymorphism of exon 4 and 5 on SP-C displays no significant correlation with RDS of the Han nationality newborns in Inner Mongolia.
出处
《中国小儿急救医学》
CAS
2015年第7期454-457,共4页
Chinese Pediatric Emergency Medicine
基金
内蒙古自治区自然科学基金项目（2011MS1111）
内蒙古自治区卫生厅科研项目（2010036）
