摘要
珠蛋白生成障碍性贫血是一类发病率较高的常染色体显性遗传病,除输血及骨髓造血干细胞移植之外,目前尚无较好的治疗方法,产前诊断是防止重型地贫胎儿出生积极有效的应对措施。近年来,在血红蛋白异常筛查方面出现了全自动血红蛋白电泳、高效液相色谱、傅里叶变换红外光谱等新技术;在基因诊断领域出现了DNA芯片技术、悬浮点阵技术、DNA测序、多重PCR等。由于这些新的技术具有更准确、灵敏、方便等优点,它们正在逐渐取代以往所使用的旧方法。非侵入性产前诊断、种植前遗传诊断成为地贫产前诊断的重要发展方向。目前对胎儿的超声检查仍不能取代血红蛋白电泳在地贫高发地区对孕妇群体进行携带者筛查,种植前遗传诊断存在着一定的医疗风险,绝大多数病例的预防仍是通过对高风险胎儿进行产前基因诊断来实现。
Thalassemia is one of the most common autosomal dominant inherited disease with high morbidity. There is no better treatment than blood transfusion and bone marrow stem cell transplantation at present. Termination of pregnancy after prenatal diagnosis, as applied to prevent the birth of fetus with thalassemia major, is a positive and effective clinical strategy. In recent years, some new technologies appeared such as automatic capillary electrophoresis, high performance liquid chromatography and Fourier transform infrared spectroscopy in screening for hemoglobinopathies. There also were many new technologies applied to gene diagnosis for thalassemia such as DNA chip, suspension array, DNA sequencing and multiplex PCR. These new technologies are replacing the old ones for their preciseness, sensibility and convenience. Non-invasive prenatal diagnosis and preimplantation genetic diagnosis have emerged as important developments of prenatal diagnosis for thalassemia. Ultrasonography for the fetus with thalassemia major can not replace the hemoglobin electrophoresis screen in high-prevalence areas at present. There are still certain practical risks in clinical application of preimplantation genetic diagnosis. Prenatal gene diagnosis for high-risk fetuses is still the most common prevention strategy selected today.
出处
《分子诊断与治疗杂志》
2011年第4期283-288,共6页
Journal of Molecular Diagnostics and Therapy
基金
云南省高层次人才培引工程资助项目(20080C009)
关键词
地中海贫血
分子基础
产前诊断
基因诊断
Thalassemia
Molecular basis
Prenatal diagnosis
Gene diagnosis
