内蒙古地区汉族新生儿呼吸窘迫综合征与SP-B 1580位点基因多态性的相关性研究

目的 研究肺表面活性物质蛋白B（SP-B）基因1580位点与内蒙古地区汉族新生儿呼吸窘迫综合征（NRDS）的关系.方法 采用前瞻性研究方法,选择100例汉族NRDS患儿（病例组）与100例汉族正常新生儿（对照组）作为研究对象,应用PCR基因分析技术检测SP-B 1580位点基因多态性,分析多态性与NRDS的关系.结果 内蒙古地区汉族SP-B 1580位点基因型均可检出3种基因型：即TT、CT及CC型.汉族NRDS组此3种基因型频率分别为：9.0％、27.0％和64.0％,T等位基因频率为19.5％,C等位基因频率为80.5％.汉族正常对照组3种基因型分别为13.0％、40.0％和47.0％,T等位基因频率为33.0％,C等位基因频率为67.0％.汉族NRDS组SP-B 1580位点基因型以C等位基因分布频率显著增高,关于SP-B 1580位点基因多态性汉族NRDS组与汉族正常对照组相比有统计学差异（x2=5.499,P=0.019）.结论 内蒙古汉族新生儿SP-B基因型及等位基因频率在不同性别、出生体质量、胎龄、生产方式等无明显关联;SP-B 1580C等位基因可能是内蒙古地区汉族新生儿患RDS的易感基因之一.

The Correlation Anslysis Of Neonatal Respiratory Distress Syndrome With The HAN Nationality And SP-B Gene 1580 Loci Plymorphisms In Inner Mongolia

Objective To study the association between the SP - B gene 1580 loci polymorphisms and neonatal respiratory distress syndrome （NRDS） with the Han nationality newborns of Inner Mongolia. Methods Using the prospective study method, one hundred newborns with NRDS （case group） and 100 newbrons without RDS （control group） were selected as subjects in the Han nationality of Inner Mongolia. PCR gene anal- ysis was used to establish the polymorphisms of SP - B 1580 loci, and then analyze the association between the polymorphisms and NRDS. Results In the Han nationality of Inner Mongolia region, SP - B 1580 genotypes can check out three genotypes： namely TT, CT and CC. The frequencies of genotype TT, CT, CC of case group were 9.0 %, 27.0 %, 64.0 % ; and the frequencies of allele T and allele C were 19.5 %, 80.5 %. Besides, the frequencies of genotype TT, CT, CC of control group were 13.0 %, 40.0 %, 47.0% ; and the frequencies of allele T and allele C were 33.0 %, 67.0 %. The frequency of allele C of SP - B 1580 loci was significantly higher in the case group, There was statistically different between the case group and the control group about polymorphisms of SP - B 1580 loci（χ2 = 5. 499, P = 0. 019）. Conclusion SP - B gene 1580 loci polymorphisms and frequencies of allele T and allele Cin the Han nationality newborns of Inner Mongolia displays no significant correlation with sex, birth weight or gestational age. SP - B 1580 C allele might be the susceptibility gene of RDS in Han nationality newborns of the Inner Mongolia.