论文部分内容阅读
目的探讨乌鲁木齐市维吾尔族与汉族新生儿脐带血中微粒体环氧化物水解酶(EPHX1)基因多态性与低出生体重(LBW)的关系。方法采用病例对照研究方法,收集出生体重<2 500 g的单胎足月新生儿96例作为病例组,出生体重2 500~4 000 g的单胎足月新生儿208例作为对照组,采集所有新生儿脐带血并提取DNA,通过华大基因Wafer Gen平台的4-primer Sequencer-ready建库方法检测EPHX1基因两个位点的基因多态性。对LBW组和正常组基因型频率、等位基因频率的比较采用χ~2检验,采用SHEsis在线软件进行Hardy-Weinberg平衡检验,并进行单倍型分析。结果 EPHX1基因His139Arg和Ile181Ser两个SNP位点基因型分布均符合Hardy-Weinberg平衡(P>0.05)。汉族及维吾尔族中Ile181Serw位点的TG基因型及汉族G等位基因可降低LBW发生的危险性;His139Arg和Ile181Ser位点多态性存在联合作用,与野生型AA/TT基因型组合比较,AA/TG基因型组合可降低LBW的危险性。汉族中携带A-G单体型的新生儿发生LBW的危险降低,而携带G-T单体型的新生儿发生LBW的风险增高。维吾尔族中单倍型分析结果无意义。结论 LBW的发生与His139Arg多态性无相关性,而与Ile181Ser多态性有关,但其机制尚待进一步研究。
Objective To investigate the relationship between polymorphism of microsomal epoxide hydrolase (EPHX1) gene and low birth weight (LBW) in umbilical cord blood of Uygur and Han Chinese newborns in Urumqi. Methods A case-control study was carried out to collect 96 singletonic full-term newborns with birth weight <2,500 g as the case group and 208 singleton full-term newborns with the birth weight of 2 500 to 4 000 g as the control group. Neonatal umbilical cord blood and DNA were extracted and the gene polymorphisms of two sites of EPHX1 gene were detected by 4-primer Sequencer-ready library construction of Wafer Gen platform. The genotype frequency and allele frequency of LBW group and normal group were compared byχ ~ 2 test, Hardy-Weinberg equilibrium test by SHEsis online software and haplotype analysis. Results The distribution of genotypes of His139Arg and Ile181Ser in EPHX1 gene all accorded with Hardy-Weinberg equilibrium (P> 0.05). TG genotype of Ile181Serw locus and Han G allele in Han nationality and Uygur nationality could reduce the risk of LBW. His139Arg and Ile181Ser loci polymorphism had combined effect. Compared with wild-type AA / TT genotype, AA / TG genotype combination can reduce the risk of LBW. Neonates carrying the A-G haplotype in the Han have a reduced risk of developing LBW, while those carrying the G-T haplotype have an increased risk of LBW. Uygur haplotype analysis results meaningless. Conclusion There is no correlation between the occurrence of LBW and His139Arg polymorphism, but with Ile181Ser polymorphism, but the mechanism remains to be further studied.