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目的探讨CYP1A1、CYP1B1基因多态性与复发性流产(RPL)遗传易感性关系,为预防和治疗该病提供新靶点。方法本研究采用等位基因特异性PCR(As-PCR)和聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法,针对CYP1A1基因MspΙ酶切位点和CYP1B1 L432V多态位点,检测81例患有原因不明RPL病例组和98名有生育史健康女性对照组之间差异。结果 RPL组和对照组CYP1A1 MspΙ位点3种基因型m1/m1、m1/m2、m2/m2分布频率差异无统计学意义(χ2=0.335,P>0.05);CYP1B1 L432V多态位点3种基因型C/C、C/G、G/G在病例组和对照组分布差异有统计学意义(χ2=7.467,P<0.05);2组间C、G等位基因分布差异有统计学意义(χ2=9.129,P=0.003);G/G、C/G基因型与C/C基因型比较,RPL危险度分别提高2.620、1.954倍;等位基因G使RPL危险性增加2.038倍。结论 CYP1B1 L432V突变基因型增加RPL发病风险,尚不能认为CYP1A1基因MspI位点多态性与RPL易感性有关。
Objective To investigate the relationship between genetic polymorphisms of CYP1A1 and CYP1B1 and genetic susceptibility to recurrent spontaneous abortion (RPL), and to provide a new target for the prevention and treatment of this disease. Methods In this study, allele-specific PCR (As-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to detect the polymorphisms of CYP1A1 gene MspI and CYP1B1 L432V polymorphism , The difference between 81 cases with unexplained RPL and 98 healthy women with reproductive history was detected. Results There was no significant difference in the distribution frequencies of m1 / m1, m1 / m2 and m2 / m2 between CYP1A1 MspI loci in RPL group and control group (χ2 = 0.335, P> 0.05) There were significant differences in the distribution of C / C, C / G and G / G genotypes between cases and controls (χ2 = 7.467, P <0.05). There was significant difference in the distribution of C and G alleles (χ2 = 9.129, P = 0.003). Compared with C / C genotype, G / G and C / G genotypes increased the risk of RPL by 2.620 and 1.54 times respectively; allele G increased risk of RPL by 2.038 times. Conclusion CYP1B1 L432V mutant genotypes increase the risk of RPL, we can not believe that CYP1A1 MspI polymorphism and RPL susceptibility.