| 摘要: |
| ［摘要］ 目的 探讨Gap-PCR与反向斑点杂交技术在α-地中海贫血中的应用价值。方法 采用PCR（即Gap-PCR）技术检测缺失型α-地中海贫血；用反向斑点杂交技术检测非缺失型α-地中海贫血。结果 在3 896份标本中共检出237例α地贫，阳性检出率为6.08%；通过Gap-PCR技术检测出56例α缺失型地贫，基因型分别为东南亚缺失型（--SEA）、右侧缺失型（-α3.7）和左侧缺失型（-α4.2）；4例HbH型；通过反向斑点杂交技术检测出8例非缺失型α地贫，基因型分别为αα/αQS和αα/αWS。结论 α-地中海贫血是我国南方影响最大的常见遗传病之一，应加强对地中海贫血的血液学筛查和基因诊断，提高诊断符合率。 |
| 关键词: Gap-PCR 反向斑点杂交技术 α-地中海贫血 |
| DOI：10.3969/j.issn.1674-3806.2010.07.14 |
| 分类号:R 556.7 |
| 基金项目: |
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| Application of Gap-PCR and reverse dot blot hybridization technique in the detection of α-thalassemia |
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QIN Gui-fang,ZHOU Ying,LIU Xin, et al.
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Department of Clinical Laboratories, the People′s Hospital of Gangxi Zhuang Autonomons Region,Nanning 530021,China
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| Abstract: |
| ［Abstract］ Objective To understand the appilcation of Gap-PCR and reverse dot-blot hybridization techniqne in the detection of α-thalassemia.Methods The gap PCR (or Gap-PCR) detection was used for deletional α-thalassemia, reverse dot-blot hybridization for non-deletional α-thalassemia.Results Of 3896 specimens, 237 cases of α-thalassemia were detected and the detection rate was 6.08 percent. By Gap-PCR technique, 56 cases of deletional α-thalassemia were detected and genotypes were : missing in Southeast Asia type (--SEA), the right side of deletional (-α3.7) and the left side of deletional (-α4.2); 4 cases of HbH were found. Through reverse dot blot hybridization,8 cases of non-deletional α-thalassemia were detected and genotypes were: αα/αQS and αα/αWS.Conclusion α-thalassemia is a common genetic disease with greatest influence in southern China, and the hematology screening and genetic diagnosis of thalassemia should be strengthened to improve the diagnosis rate. |
| Key words: Gap-PCR Reverse dot blot hybridization α-thalassemia |
