摘要
目的了解该地区傣族人群珠蛋白生成障碍性贫血(Thal)患病率和基因缺失突变类型。方法对710例傣族人群进行红细胞指数、微量血红蛋白(Hb)电泳、HbA2定量检测初筛,以聚合酶链发应(PCR)和反向点杂交技术鉴定β-Thal基因突变类型,以跨跃断裂位点PCR(GAP-PCR)技术和凝胶电泳鉴定α-Thal基因缺失类型。结果α-和β-Thal检出率分别为25.35%(180/710)、14.51%(103/710),β-Thal复合α-Thal检出率为29.13%(30/103)。结论该地区傣族人群Thal检出率较高,应积极制订有效的干预和控制措施,降低Thal患儿的出生率。
Objective To investigate the incidence ratio and mutation type of thalassemia（Thal） of Dai Nationality in this region.Methods 710 cases of subjects of Dai Nationality were enrolled and screened for red blood cell parameters,micro-dosage hemoglobin（Hb） electrophoresis and HbA2 quantitation.β-Thal mutation genotypes were identified through polymerase chain reaction（PCR） and reverse dot-blotting hybridization.α-Thal gene deletion were diagnosed by GAP-PCR and gel electrophoresis.Results Detection rates of α-and β-Thal were 25.35%（180/710） and 14.51%（103/710） respectively,of β-Thal combined with α-Thal was 29.13%（30/103）.Conclusion The detection rate of Thal might be relatively high in Dai Nationality in this region.Effective intervention and control should be strengthened for decreasing the birth rate of child patient with Thal.
出处
《国际检验医学杂志》
CAS
2012年第6期717-718,共2页
International Journal of Laboratory Medicine
