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目的探讨中国人群DGKK基因单核苷酸多态性(SNP)与先天性尿道下裂发生的相关性。方法应用聚合酶链反应(PCR)、基因测序的方法对85例尿道下裂和88例正常男性小儿DGKK基因的5个SNP位点(rs1934179、rs7063116、rs4074320、rs5961179和rs4143304)进行测序,并对基因型进行分析。结果 (1)在病例组和对照组间,早产(P=0.012)和低出生体重(P=0.01)具有统计学差异。(2)DGKK基因5个位点基因型频率(基因频率)在病例—对照组间的差异P值均大于0.05,分别为rs1934179(0.509)、rs7063116(0.857)、rs4074320(0.409)、rs5961179(0.539)和rs4143304(0.471),各个位点在病例和对照组间的差异无统计学意义。并且这5个位点的基因型频率(基因频率)在轻中组、严重组和对照组间的差异P值均大于0.05,分别为rs1934179(0.562)、rs7063116(0.845)、rs4074320(0.190)、rs5961179(0.263)和rs4143304(0.398),各个位点在病例和对照组间的差异无统计学意义。(3)11个单倍型在病例组和对照组中无统计学差异,P值均大于0.05.结论中国人群中DGKK基因多态性与尿道下裂的发生可能无相关性,早产、低出生体重可能是尿道下裂发生的危险因素。
Objective To investigate the association between single nucleotide polymorphism (SNP) of DGKK gene and congenital hypospadias in Chinese population. Methods Five SNPs (rs1934179, rs7063116, rs4074320, rs5961179 and rs4143304) of DGKK gene in 85 cases of hypospadia and 88 normal male children were sequenced by polymerase chain reaction (PCR) and sequencing. Genotypes were analyzed. Results (1) There was a significant difference between preterm (P = 0.012) and low birth weight (P = 0.01) between case and control groups. (2) The P values of genotype frequency (gene frequency) at 5 loci of DGKK gene in case-control group were all greater than 0.05, rs1934179 (0.509), rs7063116 (0.857), rs4074320 (0.409), rs5961179 ) And rs4143304 (0.471). There was no significant difference between the cases and the control group at each locus. The genotype frequency (gene frequency) of these 5 loci was significantly higher than that of the control group (rs1934179 0.556, rs7063116 0.845, rs4074320 0.190, rs5961179 (0.263) and rs4143304 (0.398), there was no significant difference between the cases and the control group at each loci. (3) Eleven haplotypes showed no significant difference between the case group and the control group (P> 0.05) .Conclusion There may be no correlation between DGKK gene polymorphisms and hypospadias in Chinese population. Preterm birth and low birth Body weight may be a risk factor for hypospadias.