[Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia].

题目: 台湾型缺失β地中海贫血的基因诊断、产前诊断和植入前遗传学诊断. 目的: 对1个罕见缺失型β地中海贫血家系进行基因诊断、产前诊断和胚胎植入前遗传学诊断及分析. RESULTS: The proband was a carrier of Taiwanese deletion β- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation. 结果: 基因诊断检测出该家系的先证者为罕见的台湾型缺失β地中海贫血携带者。2次产前诊断结果显示，2个胎儿均为重型β地中海贫血患者。植入前遗传学诊断发现在11个胚胎中检测出6个可供移植胚胎. 结论: 台湾型缺失是罕见的β地中海贫血缺失类型，当复合β珠蛋白基因其他突变时可导致中重型β地中海贫血。胚胎植入前遗传学诊断是可供地中海贫血高风险家庭选择的一种优生方式.