摘要
α-地中海贫血是一组由于α-珠蛋白基因缺失或功能障碍导致α-珠蛋白链完全缺如或合成不足所引起的遗传性溶血性疾病,是我国长江以南各省发病率最高、影响最大的遗传病之一。目前对α-地中海贫血尚无理想的治疗方法。通过加强人群、婚前、产前筛查及基因诊断,防止重型地贫儿出生,是最有效的预防措施。因此快速实用、准确有效的基因诊断技术是人群、婚前、产前筛查及诊断的有力保障。本文对α-地中海贫血的分子机制、生物学检测及应用等方面进行综述。
Alpha-thalassemia is a group of genetic and hemolytic disease which is caused by alpha globin chain synthesis insufficient or absent due to a group of alpha globin gene deletion or dysfunction. As one of the largest genetic diseases, alpha-thalassemia is prevalent in south of the Yangtze River provinces in China. Currently, there are still lack of ideal treatment to the alpha-thalassemia. Strengthening on screening and diagnosing to the gene before marriage and childbirth is the best measure to prevent severe thalassemia births. Therefore, fast, accurate and effective gene diagnosis technology is a powerful guarantee for population, premarital and prenatal screening as well as diagnosis. In this paper, molecular mechanism, biological detection and application for alpha-thalassemia are summarized.
出处
《分子诊断与治疗杂志》
2015年第4期281-285,共5页
Journal of Molecular Diagnostics and Therapy
关键词
Α-地中海贫血
分子机制
基因诊断
应用
Alpha thalassemia
Molecular mechanism
Gene diagnosis
Application
