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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 relationship between T → C mutation at 5’-upstream of human CYP17 promoter and recurrent spontaneous abortion in order to provide new ideas for prevention and treatment of susceptible population. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of CYP17 promoter at position -34 in the upstream of 5 ’, and 96 patients with unexplained recurrent disease Abortion patients (case group) and 102 healthy women with reproductive history (control group) were further verified by non-denaturing polyacrylamide gel electrophoresis and silver staining, and the results of sequencing were confirmed. Results: There were significant differences in the distribution of T and C between the 5 ’upstream and the 34’ bases of CYP17 gene promoter in case group and control group (χ2 = 8.188, P <0.05). There was significant difference in the distribution of CYP17 genotype (χ2 = 10.096, P <0.05). The risk of recurrent miscarriage in heterozygous mutation (T / C) genotypes and homozygous mutation (C / C) genotypes were 0.424 and 0.271 times higher than that in wild type (T / T) genotypes respectively. CONCLUSION: The T → C mutation at 5’-upstream of human CYP17 gene promoter is associated with recurrent spontaneous abortion in northeastern China. C allele may be one of the genetic predisposing factors for recurrent spontaneous abortion.