CAJ | 학술논문

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(S186N)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(χ2=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(χ2=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。
목적：연구폐표면활성물질단백( surfactant protein,SP)-C기인다태성,우이외현자4(T138N)、5(S186N)위점위중여내몽고지구몽고족신생인호흡군박종합정(neonatal respiratory distress syndrome,NRDS)적관계。방법채용전첨성연구방법,선택51례NRDS환인(병례조)여51례정상신생인(대조조)작위연구대상,응용PCR기인분석기술검측후선기인SP-C외현자4화5유무돌변현상,병검측외현자4(T138N)、5(S186N)위점기인다태성,분석다태성여NRDS적관계。결과 SP-C외현자4화5미발현기인돌변현상。재내몽고지구몽고족,SP-C외현자4(T138N)위점균가검출3충기인형：즉AA、AC급CC형,SP-C외현자4(T138N)위점기인다태성병례조여대조조상비차이무통계학의의(χ2=0．454,P=0．797)。외현자5(S186N)위점가검출3충기인형：즉AA、AG급GG형,SP-C외현자5(S186N)위점기인다태성병례조여대조조상비차이무통계학의의(χ2=0．493,P=0．782)。결론내몽고지구몽고족신생인SP-C기인형급등위기인빈솔여성별、출생체중、태령、생산방식등무명현관련。내몽고지구몽고족NRDS환인적SP-C외현자4화5미발현기인돌변현상。 SP-C기인외현자4(T138N)、외현자5(S186N)위점기인다태성미발현여내몽고지구몽고족NRDS환인유상관성。
Objective To investigate the distribution of surfactant protein-C( SP-C) gene single nu-cleotide 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 Mon-golia 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(χ2 =0. 454,P=0. 797). In the Mongol nationality,SP-C exon 5(S186N) 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(χ2 =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.