【摘要】 目的检测广东五邑地区地中海贫血α点突变的基因型,分析其在本地区的携带率及细胞学参数的临床特征。方法采用Gap-PCR法、反向斑点杂交法检测本院妇产科及内科门诊进行地中海贫血基因诊断的受检者4408例及正常对照87例的基因型,对其分布状况及细胞学参数进行分析。结果 3种常见α点突变的检出为148例,携带率为3.36%,其中CS型、QS型及WS型三组相比较,差异有统计学意义(χ~2=6.00,P﹤0.05);单纯含有α点突变的病例为102例,其中CS型、QS型及WS型三组相比较,差异无统计学意义(χ~2=1.68,P>0.05);各组点突变患者MCV(平均红细胞体积)、MCH(平均红细胞血红蛋白量)明显低于对照组,差异有统计学意义(P﹤0.01);CS型的Hb A2(血红蛋白A2)低于对照组,差异有统计学意义(P﹤0.05)。CS和QS型点突变复合东南亚缺失型α地中海贫血表现出中间型地中海贫血,而WS型复合东南亚缺失型α地中海贫血表现为轻型地中海贫血。结论广东五邑地区有较高的地中海贫血α点突变基因携带率,其临床表型各异,在遗传咨询中需注意。更多还原

【Abstract】 Objective:To analyze the carrying rate and the clinical characteristics of cytology parameter of alpha-thalassemia point mutation through detection the genotype of alpha-thalassemia point mutation in Guangdong Wuyi region. Methods:4408cases from obstetrics & gynecology department and internal department in our hospital,and 87 cases from normal people as control group were detected by using Gap-PCR and reverse dot-blotting,and then analyze the distribution situation of alpha-thalassemia point mutation and cell parameters. Results:148 cases are of 3 common α point mutation,the carrying rate is 3.36%, There were significant difference in the carrying rate among different type(P﹤0.05).The cases of pure α point mutation are102,There were no significant difference in the carrying rate among different type(P>0.05). MCV and MCH levels of the mutational patients are significantly lower than the control group(P﹤0.01). The Hb A2 of type CS is also lower than the control group(P﹤0.05). The cases with point mutation type CS or QS compounding Southeast Asian deletion alpha-thalassemia manifest intermediate type of thalassemia,but type WS compounding Southeast Asian deletion alpha-thalassemia manifest light thalassemia. Conclusions:The α point mutant gene carrying rate of thalassemia in Guangdong Wuyi region is comparatively high. Meanwhile,the clinic phenotype of the thalassemia is of great differences,which should pay great attention on genetic consultation.更多还原