摘要
目的研究肺表面活性物质蛋白（surfactant protein，SP）-C基因多态性，尤以外显子4（T138N）、5（$186N）位点为重与内蒙古地区蒙古族新生儿呼吸窘迫综合征（neonatal respiratory distress syndrome，NRDS）的关系。方法采用前瞻性研究方法，选择51例NRDS患儿（病例组）与51例正常新生儿（对照组）作为研究对象，应用PCR基因分析技术检测候选基因SP—C外显子4和5有无突变现象，并检测外显子4（T138N）、5（S186N）位点基因多态性，分析多态性与NRDS的关系。结果SP—C外显子4和5未发现基因突变现象。在内蒙古地区蒙古族，SP—C外显子4（T138N）位点均可检出3种基因型：即AA、AC及CC型，SP—C外显子4（T138N）位点基因多态性病例组与对照组相比差异无统计学意义（χ^2=0．454，P=0．797）。外显子5（S186N）位点可检出3种基因型：即AA、AG及GG型，SP—C外显子5（S186N）位点基因多态性病例组与对照组相比差异无统计学意义（χ^2=0．493，P=0．782）。结论内蒙古地区蒙古族新生儿SP—C基因型及等位基因频率与性别、出生体重、胎龄、生产方式等无明显关联。内蒙古地区蒙古族NRDS患儿的SP—C外显子4和5未发现基因突变现象。SP—C基因外显子4（T138N）、外显子5（S186N）位点基因多态性未发现与内蒙古地区蒙古族NRDS患儿有相关性。
Objective To investigate the distribution of surfactant protein-C（SP-C） gene single nucleotide polymorphisms and to study the association between the SP-C gene polymorphisms and neonatal respiratory distress syndrome（NRDS） in infants. Methods Fifty-one infants with NRDS （NRDS group） and 51 infants without RDS （ control group） were selected. PCR gene analysis and polymerase chain reaction were used to establish the genotype and allele frequencies of SP-C exon 4 （T138N） and exon 5 （S186N）, SP-C exon 4 and 5 for the mutation, and then the association between the polymorphisms and NRDS was analyzed. Results SP-C gene mutations were not found in exon 4 and 5. In the Mongol nationality of the Inner Mongolia region, SP-C exon 4 （T138N） genotypes could check out three genotypes ：namely AA, AC and CC. The frequencies of allele A and allele C of SP-C exon 4 （T138N） were not statistically different between NRDS group and control group （χ^2 = 0. 454, P = 0. 797 ）. In the Mongol nationality, SP-C exon 5 （ S 186N） genotypes could check out three genotypes：namely AA, AG and GG. The frequencies of allele A and allele G of SP-C exon 5 （S186N） were not statistically different between NRDS group and control group （χ^2= 0. 493, P = 0. 782）. Conclusion SP-C exon 4 （T138N） and exon 5 （S186N） gene polymorphism in Inner Mongolia newborns displays no significant correlation with sex, birth weight or gestational age. SP-C gene mutations are not found in exon 4 and 5. SP-C gene exon 4 （T138N） and exon 5 （S186N） polymorphisms are not found to be associated with NRDS in Mongol nationality of the Inner Mongolia.
出处
《中国小儿急救医学》
CAS
2015年第2期108-112,共5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）
