发育医学电子杂志  2023, Vol. 11 Issue (1): 53-59 DOI: 10.3969/j.issn.2095-5340.2023.01.010 |
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临床遗传
综述
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| 基于母体外周血胎儿游离DNA 的单基因病无创产前诊断研究进展 |
| 王磊 安邦权 黄盛文 |
1. 贵州大学医学院，贵州 贵阳 550025；2. 贵州省人民医院 医学遗传科，贵州 贵阳 550002；3. 贵州省人民医院 输血科，贵州 贵阳 550002）
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| Research progress in noninvasive prenatal diagnosis ofmonogenic diseases based on cell fetal free DNA |
| Wang Lei, An Bangquan, Huang Shengwen |
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摘要 单基因遗传病是指受一对等位基因控制的遗传性疾病。截止到目前，OMIM 数据库（http://www.ncbi.nlm.nih.gov/omim/）已收录近6 000 种发病机制明确的单基因病。尽管多数单基因疾病的发生率都很低, 但可以将几千种单基因疾病的总发生率叠加在一起, 整体发病率可达2%~3%［1］。常见的
单基因病有地中海贫血、先天性耳聋、杜氏肌营养不良（Duchenne muscular dystrophy，DMD）、红绿色
盲等，其中大部分疾病都无法治愈, 并且治疗价格昂贵。因此，进行产前诊断是预防单基因遗传病以
及及早进行临床干预的主要方法。
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| 关键词:
母体外周血胎儿游离DNA
单基因遗传病
无创产前诊断
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收稿日期: 2022-11-13
发布日期: 2023-01-30
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基金资助: 贵州省科技创新人才团队项目（黔科合平台人才[2020]5011）；贵州省科技支撑计划项目（黔科合支撑[2019]2808）
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通讯作者:
黄盛文
E-mail: hsw713@sina.com
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