蒙古族新生儿呼吸窘迫综合征患儿肿表面活性物质蛋白-B1580位点基因多态性频率分布

摘要

Objective To study the association between the SP-B gene 1580 position polymorphisms and neonatal respiratory distress syndrome (NRDS) in the Mongol nationality from Inner Mongolia.To observe the frequency distribution of polymorphisms of SP-B gene 1580 position in the Mongol nationality newborns from Inner Mongolia.Methods The genotypes of SP-B gene 1580 position were detected by using polymerase chain reaction-restriction fragmnent length polymorphism assay and gene sequencing in 323 Mongol nationality newborns including the case group and the control group.The SP-B 1580C/T allele frequencies of the Mongol nationality newborns were compared with those of Han nationality from Wuhan city,German Caucasian,American Caucasian and Japanese.Results In the case group,the frequencies of TT,TC,CC at SP-B gene 1580 position were 19.9％,37.1％ and 43.0％,respectively;the frequency of the T allele was 38.4％ and C allele was 61.6％.In the control group,the frequencies of TT,TC,CC at SP-B gene 1580 position were 25.2％,39.7％ and 35.1％,respectively;the frequency of the T allele was 47.0％ and C allele was 53.0％.There were no significant differences between the case group and the control group (x2 =2.299,P =0.317).The allele frequencies of SP-B 1580 of the Mongol nationality newborns were significantly different from those of German-Caucasian and American-Caucasian (P ＜ 0.05),but were similar to those of Han nationality from Wuhan city and Japanese (P ＞ 0.05).Conclusions SP-B 1580C/T gene polymorphism in the Mongol nationality newborns displays no significant correlation with sex,birth weight or gestational age.There is no obvious correlation between SP-B gene 1580 position polymorphisms,allele frequency and the Mongol nationality NRDS.There is heterogeneity in the frequencies of polymorphisms of SP-B 1580 among different ethnic genes.%目的 研究肺表面活性物质蛋白B (SP-B) 1580位点基因多态性与内蒙古地区蒙古族新生儿呼吸窘迫综合征(NRDS)的相关性;了解内蒙古蒙古族新生儿SP-B 1580基因多态性频率分布.方法 采用PCR-限制性片段长度多态性分析技术对内蒙古地区151例蒙古族NRDS患儿(病例组)及151例蒙古族正常新生儿(对照组)进行SP-B1580位点基因型频率检测,并将内蒙古蒙古族新生儿SP-B 1580位点等位基因频率与武汉汉族新生儿、德国高加索人、美国白种人、日本人比较.结果 内蒙古地区蒙古族新生儿SP-B 1580位点可检出3种基因型:即TT、CT及CC型.病例组3种基因型频率分别为:19.9％、37.1％和43.0％,T等位基因频率为38.4％,C等位基因频率为61.6％.对照组3种基因型分别为25.2％、39.7％和35.1％,T等位基因频率为47.0％,C等位基因频率为53.0％.关于SP-B 1580位点基因多态性病例组与对照组之间差异无统计学意义(x2=2.299,P=0.317).内蒙古蒙古族与德国高加索人、美国白种人比较差异有统计学意义(P＜0.05);内蒙古蒙古族与武汉汉族、日本人比较差异无统计学意义(P＞0.05).结论 内蒙古地区蒙古族新生儿SP-B基因型及等位基因频率与不同性别、出生体质量、胎龄、生产方式等无关.SP-B 1580位点与内蒙古地区蒙古族NRDS无明显相关.不同种族SP-B1580基因多态性分布存在差异.