【摘要】 目的 :进一步弄清β地中海贫的基因型与临床表现的关系。方法 :用聚合酶链反应( PCR)技术结合特异性寡核苷酸探针斑点杂交方法 ,检测了四例 β地中海贫血患者的基因突变类型 ,并观察了他们的临床表现 ,进行文献复习。结果 :基因突变型 - 2 8( A→ T) /41- 4 2 ( - TTCT)、— 2 8纯合子、β地中海贫血同时复合α地中海贫血基因突变等的患者临床症状及贫血程度较轻更多还原

【Abstract】 Objective:[WT5BZ][ST5BZ]To investigte the relationship between genetype and clinical manifestation in β thalassemia.[WT5HZ]Methods:[WT5BZ]Gene mutation of 4 cases with β thalassemia were detected by polymerase chain reaction(PCR) and dot blot hybridization with 12 specific oligonucieotide probes simultaneously.And the clinical manifestation of the above mentioned 4 cases was observed and literatures were also reviewed in this paper.[WT5HZ]Result and Conclusion:[WT5BZ]The Clinical syptoms and anemia degree were low in those cases with gene mutation 28(A→T)/41 42( TTCT). 28 howozygotes,β thalassemia conjuncted withα thalassemia,et al.更多还原