生物
卵巢早衰
外显子组测序
遗传学
系谱图
计算生物学
同源重组
卵巢早衰
DNA测序
基因
候选基因
生物信息学
突变
医学
内科学
内分泌学
作者
Xue Jin,Hanni Ke,Yingying Qin,Zi‐Jiang Chen
标识
DOI:10.1016/j.tem.2018.07.002
摘要
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.
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