人CYP17基因启动子5'上游-34碱基处T→C突变与复发性流产

Association between SNP at 34bp upstream from the initiation of translation of human's CYP17 gene and habitual abortion

目的:探讨人类CYP17基因启动子5'上游-34碱基处T→C突变与复发性流产的关系,以期为预防和治疗该病易感人群提供新思路。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,针对CYP17基因启动子5'上游-34碱基处的多态性,检测96例患有原因不明复发性流产患者(病例组)和102例有生育史的健康女性(对照组),并用非变性聚丙烯酰胺凝胶电泳和银染法进一步验证,且采用测序方法证实实验结果。结果:病例组和对照组CYP17基因启动子5'上游-34碱基处T和C的分布差异有统计学意义(χ2=8.188,P<0.05),CYP17基因各基因型分布差异有统计学意义(χ2=10.096,P<0.05)。杂合突变(T/C)基因型和纯合突变(C/C)基因型患复发性流产的危险度较野生(T/T)基因型分别提高了0.424和0.271倍。结论:人CYP17基因启动子5'上游-34碱基处T→C突变与中国东北地区人群复发性流产有关,C等位基因可能是复发性流产的遗传易感因素之一。

Objective：To investigate the association between SNP at 34bp upstream from the initiation of translation of human＇s CYP17 gene and habitual abortion,and provide new ideas of precaution and therapy for the women with susceptibility to habitual abortion.Methods：Polymerase chain reaction-restrictive fragment length polymorphism（PCR-RFLP） was used to detect the SNP at 34bp upstream from the initiation of translation of human＇s CYP17 gene in 102 normal healthy women with breed history（control group） and 96 women with habitual abortion（case group）,and use native-PAGE and sliver staining to confirm it further and then sequencing to make sure.Results：The frequency of 34bp upstream from the initiation of translation of human＇s CYP17 gene showed a significant difference between the habitual abortion and normal healthy women（χ2=8.188,P0.005）.There is a statistical difference in the frequency of genotype T/T,T/C and C/C between the two groups（χ2=10.096,P0.005）,compared with wild-type T/C the susceptibility of habitual abortion with the genotypes of homozygotic mutation C/C and heterozygote mutation T/C was increased by 0.424 and 0.271.Conclusion：SNP at the point of 34bp upstream from the initiation of translation of human＇s CYP17 gene has relationship with habitual abortion from northeast Chinese population and C allele may be one of the genetic susceptibility factors to habitual abortion.