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

The correlation between neonatal respiratory distress syndrome and Surfactant protein B genetic polymorphisms in the Mongol nationality from Inner Mongolia

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-B1580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—B1580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-B1580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-B1580位点基因多态性病例组与对照组之间差异无统计学意义（x^2=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—B1580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。

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 fragment 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 ＇IT, 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 TI＇, 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 （x^2 = 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.