国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 178-181.

• 综述 • 上一篇    下一篇

α和β地中海贫血无创产前诊断研究进展

周万军，徐湘民   

  1. 510515 广东省广州市，南方医科大学基础医学院医学遗传学教研室
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 徐湘民

Non-invasive Prenatal Diagnosis of α and β-Thalassemia: a Minireview

ZHOU Wan-jun, XU Xiang-min   

  1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: XU Xiang-min

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摘要： 地中海贫血是我国南方地区最常见的一种单基因遗传病，难以治愈且代价昂贵，通过穿刺术采集高风险胎儿的遗传物质进行产前基因诊断，防止重型患儿出生是国内外公认的首选措施。通过穿刺手术采集绒毛、羊水或脐带血而获取胎儿遗传物质进行产前诊断的有创性操作，可能造成胎儿损伤、流产或宫内感染等。自从母体血浆中发现存在胎儿DNA，以此胎儿遗传物质为检测靶标的无创产前诊断技术迅速发展。基于此类游离胎儿DNA的无创产前诊断更安全，且易于被受试者接受，也避免了获取胎儿遗传物质的创伤性操作导致的不必要风险。综述地中海贫血无创产前诊断的技术策略及其应用。

关键词: α地中海贫血, β地中海贫血, 产前诊断, DNA, 序列分析

Abstract: Thalassemiases are a group of the most common monogenic diseases in southern provinces of China. It is first choice method to prevent the birth of the affected children by prenatal genetic diagnosis in those high-risk couples through invasive sampling, which is widely accepted in the world. The risk of fetal injury, miscarriage or intrauterine infection may be caused by the invasive operation to collect villus, amniotic fluid, or cord blood for prenatal diagnosis. Since the cell-free fetal DNA（cff-DNA） was discovered in maternal plasma, the cff-DNA-based non-invasive prenatal diagnosis（NIPD） technology has been rapidly developed. The cff-DNA-based NIPD is safer and easily acceptable. In this review, noninvasive approaches in prenatal diagnosis of thalassemias were briefly discussed.

Key words: alpha-thalassemia, beta-thalassemia, Prenatal diagnosis, DNA, Sequence analysis