FMR1基因突变与自然流产及复发性流产的相关性研究  

The correlation of FMR1 gene mutation with spontaneous abortion and recurrent spontaneous abortion

作　　者：黄凌云[1] 沈晔 钱芳波[1] HUANG Ling-yun;SHEN Ye;QIAN Fang-bo(Family Planning Department,Wuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University,Wuxi 214002,China)

机构地区：[1]南京医科大学附属无锡市妇幼保健院计划生育科,江苏无锡214002

出　　处：《实用医院临床杂志》2020年第5期23-26,共4页Practical Journal of Clinical Medicine

基　　金：江苏省妇幼健康重点学科资助项目(编号FXK2017)。

摘　　要：目的分析早期自然流产、复发性流产患者脆性智力低下1号基因(Fragile X retardation-1,FMR1)与CGG重复序列数,初步了解FMR1基因与早期自然流产及复发性流产的相关性,为未来自然流产及复发性流产的病因学研究提供依据。方法选择2017年2月至2019年2月我院接诊自然流产及复发性流产女性患者144例作为试验组,同期在我院接受常规产检的70例既往无自然流产或复发性流产史的女性70例作为对照组。检测全部女性的FMR1基因分布频率,提取基因组DNA,应用FRM1基因试剂盒经X检测技术与荧光PCR技术,使用毛细管电泳仪分析扩增产物,检测FRM1基因CGG复序列数,比较自然流产组、复发性流产组、对照组的女性FRM1基因CGG重复次数分布及中间型FMR1基因分布情况,比较试验组与研究组女性FRM1基因前突变、突变检出情况。结果全部试验组与对照组均未检出FMR1基因全突变者;自然流产组与复发性流产组CGG重复最大频率等位基因由高至低依次为30、29、36、31,对照组CGG重复最大频率等位基因由高至低分别为30、29、36、31,3组间CGG重复位点数比较差异无统计学意义(P>0.05);组间中间型FMR1基因携带率比较差异无统计学意义(P>0.05);试验组FMR1基因前突变携带率高于对照组,但组间比较差异无统计学意义(P>0.05)。结论FRM1基因突变可能与女性自然流产及复发性流产相关,检测自然流产及复发性流产患者的FRM基因突变情况,对给予女性下次妊娠优生指导有着一定的临床意义。Objective To analyze the repeated sequence number of fragile X mental retardation 1(FMR1)CGG in patients with early spontaneous abortion and recurrent spontaneous abortion in order to comprehend the relationship of FMR1 gene with early spontaneous abortion and recurrent spontaneous abortion,and to provide the basis for future etiological studies of spontaneous abortion and recurrent spontaneous abortion.Methods One hundred and forty-four female patients with spontaneous abortion and recurrent spontaneous abortion in our hospital from February 2017 to February 2019 were selected as the experimental group,and 70 women without history of spontaneous abortion or recurrent abortion who underwent routine antenatal examination in our hospital during the same period were selected as the control group.The distribution frequency of FMR1 gene in all women was detected.First,the genomic DNA was extracted,and the FRM1 gene kit was used through X-detection technique and fluorescent PCR technique.The amplification product was analyzed by capillary electrophoresis apparatus,and the repeated sequence number of CGG of FRM1 gene was detected.The distribution of CGG repetition number of FRM1 gene was compared among spontaneous abortion group,recurrent spontaneous abortion group and control group.The distribution of intermediate FMR1 gene in the three groups was compared.The FRM1 gene pre-mutation and mutation were compared between experimental group and research group.Results No FMR1 gene mutation was detected in the experimental group and the control group.The maximum CGG repeat frequency alleles from high to low in the 3 group were as follows 30,29,36 and 31(P>0.05).There was no statistical difference in the carrying rate of intermediate FMR1 gene among the 3 groups(P>0.05).The carrying rate of FMR1 gene pre-mutation in the experimental group was higher than that in the control group,but there was no statistical difference between the two groups(P>0.05).Conclusion FRM1 gene mutation may be associated with spontaneous abortion and

关 键 词：自然流产 复发性流产 FMR1基因突变 相关性分析 

分 类 号：R714.2[医药卫生—妇产科学]