FMR1基因(CGG)n重复数与不良妊娠结局的相关性
| 作者: |
1屈小玲,
1孙敬霞
1 哈尔滨医科大学附属第一医院妇产科，哈尔滨 150000 |
| 通讯: |
孙敬霞
Email: sjxsw2013@163.com |
| DOI: | 10.3978/j.issn.2095-6959.2021.10.032 |
摘要
复发性流产、死胎等不良妊娠结局给女性身心造成巨大的危害，通常产生长期和负面的影响，其病因涉及免疫、夫妇染色体异常等。近年来国内外诸多学者研究发现脆性X智力低下1基因(fragile x mental retardation 1，FMR1)与不良妊娠结局密切相关：FMR1基因CGG重复数>200次可导致FMR1基因转录异常，其相关蛋白——脆性X智力低下蛋白(fragile X mental retardation protein，FMRP)表达减少或缺失，造成严重的智力低下及自闭症。FMR1基因CGG重复数在55~200次与卵巢早衰发生显著相关，而卵巢功能障碍是流产和试管受精(in-vitro fertilization，IVF)失败等重要发病机制。
关键词：
FMR1基因；复发性流产；自闭症；智力低下；妊娠期代谢综合征
Correlation between FMR1 gene (CGG)n repeat number and adverse pregnancy outcome
CorrespondingAuthor: SUN Jingxia Email: sjxsw2013@163.com
DOI: 10.3978/j.issn.2095-6959.2021.10.032
Abstract
The occurrence of adverse pregnancy outcomes, such as recurrent miscarriage and stillbirth, causes great harm to women’s physical and mental health, and usually produces long-term and negative effects. The etiology involves immunity, chromosomal abnormalities in couples etc. In recent years, many scholars have found that fragile X mental retardation 1 (FMR1) is closely related to adverse pregnancy outcomes: the number of CGG repeats of FMR1 gene >200 times could lead to abnormal transcription of FMR1 gene; reduced or absent expression of related protein—fragile X mental retardation protein (FMRP), results in severe mental retardation and autism. The number of CGG repeats of FMR1 gene between 55–200 is significantly related to the occurrence of premature ovarian failure, and ovarian dysfunction was an important pathogenesis such as abortion and in-vitro fertilization (IVF) failure.
Keywords：
FMR1 gene; recurrent miscarriage; autism; low intelligence; pregnancy metabolic syndrome