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【目的】探讨新生儿P53基因多态性及环境因素与低出生体重儿之间是否存在关联。【方法】采用病例对照研究方法,收集母亲和新生儿资料,并根据新生儿出生体重和孕周进行分组,分为健康对照组和低出生体重组,其中低出生体重组包括早产儿组和小于胎龄儿组。使用多聚酶链-限制性片段长度多态性(PCR-RFLP)方法检测其外周血p53基因的2个多态性位点p53codon72、p53PIN3(rs1042522,rs17878362)并比较各自的基因型和等位基因的分布频率。【结果】1)多因素非条件Logistic回归分析显示低出生体重儿的发生与胎儿性别、产妇文化程度、产前检查和居住地有关,回归系数分别为-0.710、1.055、0.825、-0.676。2)p53codon72位点基因型总体分布差异有统计学意(χ2=19.182,P=0.001),而p53PIN3位点的基因型总体分布差异没有统计学意义(χ2=0.566,P=0.754)。p53codon72位点Pro/Pro基因型在早产儿组和小于胎龄儿组的分布明显高于健康对组,其两组携带Pro/Pro基因型风险与健康对照组的OR值分别为2.317(95%CI:1.290～4.162,P=0.002)、2.805(95%CI:1.599～4.919,P=0.000)。【结论】遗传和环境因素及其交互作用在低出生体重儿的发生中均起着重要的作用。p53codon72位点多态性与低出生体重遗传易感性存在相关性,Pro等位基因可能是低出生体重的遗传易感基因。
【Objective】 To investigate whether there is a relationship between neonatal P53 gene polymorphism and environmental factors and low birth weight infants. 【Methods】 A case-control study was conducted to collect data on mothers and newborns. According to the birth weight and gestational age of newborns, the patients were divided into healthy control group and low birth weight group. The low birth weight group including premature infants and less than Gestational age group. Two polymorphic sites of p53 gene p53codon72 and p53PIN3 (rs1042522, rs17878362) in peripheral blood were detected by polymerase chain-restriction fragment length polymorphism (PCR-RFLP) and their genotypes and alleles were compared Distribution frequency. 【Results】 1) Multivariate non-conditional logistic regression analysis showed that the incidence of low birth weight infants was related to fetal gender, maternal education level, prenatal examination and residence. The regression coefficients were -0.710, 1.055, 0.825, -0.676.2 The overall distribution of p53codon72 locus was statistically different (χ2 = 19.182, P = 0.001). However, there was no significant difference in the overall distribution of p53PIN3 loci (χ2 = 0.566, P = 0.754). The distribution of p53codon72 Pro / Pro genotype in preterm and small gestational age group was significantly higher than that in healthy control group. The odds ratio of Pro / Pro genotype of p53codon72 and healthy control group was 2.317 (95% CI: 1.290-4.162, P = 0.002), 2.805 (95% CI: 1.599-4.919, P = 0.000). 【Conclusion】 Both genetic and environmental factors and their interactions play an important role in the pathogenesis of low birth weight infants. p53codon72 polymorphism and low birth weight genetic predisposition there is a correlation, Pro allele may be low birth weight genetic susceptibility genes.