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目的:探讨被动吸烟孕妇的胎儿GSTM1、GSTT1基因及细胞色素P4501A1(CYP1A1)基因多态性对胎儿先天性畸形的影响。方法:采用病例-对照研究方法,选取2012年4月~2013年4月在深圳市妇幼保健院产科入院分娩单胎、活产的87例畸形儿为研究对象,将其设为病例组,选择同期出生的181例正常新生儿作为对照组;应用多重PCR技术确定先天性畸形儿和正常新生儿GSTM1、GSTT1基因型,采用限制性内切酶PCR(RFLP-PCR)技术确定先天性畸形儿和正常新生儿CYP1A1基因型。结果:共调查268例新生儿,其中病例组87例,对照组181例。病例组的CYP1A1基因MSP1多态突变型的频率与对照组比较差异有统计学意义(P<0.05),携带突变型CYP1A1基因的个体为先天性畸形的危险度比非突变型(杂合型和野生型)个体高;单一的GSTM1和GSTT1基因型分布频率在病例组与对照组中比较差异无统计学意义(P>0.05);同时携带CYPlAl突变型和GSTM1、GSTT1缺失型的联合基因型个体为先天性畸形儿的风险明显增加。结论:CYP1A1基因MSP1多态突变型可能与先天性畸形儿的易感性有关;单一的GSTM1和GSTT1基因缺失型可能与先天性畸形儿的易感性无关;同时携带CYPlAl突变型和GSTM1、GSTT1缺失型的联合基因型可能是胎儿先天性畸形的易感因素之一。
Objective: To investigate the effect of fetal GSTM1, GSTT1 gene and CYP1A1 gene polymorphism on fetal congenital malformation in passive smoking pregnant women. Methods: A case-control study was conducted in 87 cases of deformity who were born in Shenzhen Maternal and Child Health Hospital from April 2012 to April 2013, 181 normal newborns born in the same period were taken as the control group. The genotypes of GSTM1 and GSTT1 in congenital malformations and normal newborns were determined by multiplex PCR. RFLP-PCR was used to identify the congenital malformations Normal neonatal CYP1A1 genotype. Results: A total of 268 newborns were investigated, including 87 cases in the case group and 181 cases in the control group. The frequency of MSP1 polymorphism in CYP1A1 gene in case group was significantly lower than that in control group (P <0.05). The risk of congenital malformations was higher in those with CYP1A1 gene mutation than those in non-mutant (heterozygous and Wild-type) individuals. The distribution frequencies of single genotypes of GSTM1 and GSTT1 were not significantly different between the case group and the control group (P> 0.05). The genotypes carrying CYP1A1 mutant and GSTM1, GSTT1 deletion genotype The risk of congenital malformations increased significantly. CONCLUSIONS: The MSP1 polymorphism of CYP1A1 gene may be related to the susceptibility of children with congenital malformations. The deletion of single GSTM1 and GSTT1 genes may not be related to the susceptibility of congenital malformations. CYP1A1 mutant and GSTM1, GSTT1 deletion The combined genotype may be one of the predisposing factors for fetal congenital malformations.