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目的了解武汉汉族新生儿肺表面活性物质蛋白B(SP-B)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和基因测序技术对武汉汉族新生儿286例(男205例,女81例)进行SP-B 1580C/T位点基因型频率检测,并将武汉汉族新生儿SP-B 1580C/T等位基因频率与德国高加索人、美国白种人及日本人比较。结果武汉汉族新生儿SP-B 1580位点基因型CC、CT、TT频率分别为44.8%、47.6%和7.6%,等位基因C和T频率分别为68.5%和31.5%;不同性别、出生体质量、胎龄新生儿SP-B 1580位点的基因型及等位基因频率比较均无统计学差异。武汉汉族新生儿SP-B 1580等位基因频率与德国高加索人和美国白种人相比均有统计学差异(Pa<0.01),但与日本人比较差异无统计学意义。结论武汉汉族新生儿SP-B 1580基因型及等位基因频率在不同性别、出生体质量、胎龄中无明显关联。不同种族人群SP-B 1580C/T基因多态性分布存在明显差异。
Objective To understand the frequency distribution of pulmonary surfactant protein B (SP-B) gene in Wuhan Han nationality. Methods Genomic frequency of SP-B 1580C / T locus was detected in 286 neonates in Wuhan Han ethnicity (205 males and 81 females) by PCR-restriction fragment length polymorphism (PCR-RFLP) and gene sequencing. Han Chinese newborn SP-B 1580C / T allele frequency compared with the German Caucasians, American White and Japanese. Results The frequencies of CC, CT and TT genotypes of SP-B 1580 loci in Wuhan Han were 44.8%, 47.6% and 7.6%, respectively. The frequency of allele C and T were 68.5% and 31.5%, respectively. There was no significant difference in the genotype and allele frequencies of SP-B 1580 loci in neonates with quality and gestational age. The frequency of SP-B 1580 allele in Han Han newborns in Wuhan was significantly higher than that in Caucasian and Caucasian Caucasians in Germany (Pa <0.01), but no significant difference compared with Japanese. Conclusion The genotypes and allele frequencies of SP-B 1580 in Wuhan Han newborns have no significant correlation with gender, birth weight and gestational age. There were significant differences in the distribution of SP-B 1580C / T polymorphism among ethnic groups.