FMR1基因突变对人类生殖与发育的影响：一项系统综述
The impact of FMR1 gene mutations on human reproduction and development: a systematic review.
作者信息
Noto Vincenzo, Harrity Conor, Walsh David, Marron Kevin
机构信息
Sims Clinic, Clonskeagh, Dublin 14, Ireland.
Sims Clinic, Mahon Point, Cork, Ireland.
出版信息
J Assist Reprod Genet. 2016 Sep;33(9):1135-47. doi: 10.1007/s10815-016-0765-6. Epub 2016 Jul 18.
PURPOSE
This is a comprehensive review of the literature in this field attempting to put the FMR1 gene and its evaluation into context, both in general and for the reproductive health audience.
METHODS
Online database search of publications with systematic review of all papers relevant to ovarian reserve and assisted reproduction was done.
RESULTS
Relevant papers were identified and assessed, and an attempt was made to understand, rationalize and explain the divergent views in this field of study. Seminal and original illustrations were employed.
CONCLUSIONS
FMR1 is a highly conserved gene whose interpretation and effect on outcomes remains controversial in the reproductive health setting. Recent re-evaluations of the commonly accepted normal range have yielded interesting tools for possibly explaining unexpected outcomes in assisted reproduction. Fragile X investigations should perhaps become more routinely assessed in the reproductive health setting, particularly following a failed treatment cycle where oocyte quality is thought to be a contributing factor, or in the presence of a surprise finding of diminished ovarian reserve in a young patient.
目的
这是对该领域文献的全面综述，旨在从总体上以及针对生殖健康受众的角度，将FMR1基因及其评估置于相应背景中。
方法
通过在线数据库搜索相关出版物，并对所有与卵巢储备和辅助生殖相关的论文进行系统综述。
结果
识别并评估了相关论文，试图理解、合理化并解释该研究领域中存在的不同观点。采用了具有开创性和原创性的例证。
结论
FMR1是一个高度保守的基因，其在生殖健康背景下的解读及其对结果的影响仍存在争议。最近对普遍接受的正常范围的重新评估产生了一些有趣的工具，可能有助于解释辅助生殖中出现的意外结果。在生殖健康背景下，或许应更常规地评估脆性X，特别是在治疗周期失败且认为卵母细胞质量是一个促成因素的情况下，或者在年轻患者中意外发现卵巢储备减少的情况下。
Zotero 插件