赤道几内亚比奥科岛居民的镰型红细胞病的流行病学调查  

Epidemiological investigation of the sickle cell disease in local inhabits on Bioko Island,Equatorial Guinea

作　　者：谢东德[1,2] 陈江涛[1,3] Urbano Monsuy Eyi Rocio Apicante Matesa Maximo Miko Ondo Obono Carlos Sala Ehapo 岳亮[6] 郭翼华[2] 古杰超 詹小芬[6] 杨辉[6] 杨惠钿[6] 杨立业[6] 林敏[6] 

机构地区：[1]中国第二十六批援赤道几内亚医疗队,广东广州510000 [2]江门市人民医院检验科,广东江门529020 [3]惠州市中心医院医学检验中心,广东惠州516001 [4]赤道几内亚共和国马拉博市马拉博地区医院中心血站 [5]赤道几内亚共和国马拉博市马拉博地区医院医学检验科 [6]潮州市中心医院中心实验室,广东潮州521021

出　　处：《分子诊断与治疗杂志》2015年第2期78-82,共5页Journal of Molecular Diagnostics and Therapy

基　　金：中国博士后科学基金(2013M542195);国家自然科学基金(81101329)

摘　　要：目的了解非洲赤道几内亚比奥科岛(Bioko Island)人群的镰刀形红细胞病(sickle cell disease,SCD)的流行病学特点。方法在2013年1月至12月期间,采用红细胞镰变试验对1 036名本岛居民进行筛查。用高分辨熔解曲线(high-resolution melting,HRM)分析和PCR-DNA测序法对筛查阳性的标本进行基因型鉴定。结果赤道几内亚比奥科岛居民的SCD发生率为16.99%(176/1 036)。HRM法与PCR-DNA测序法具有较好的一致性(100%)。结论比奥科岛是SCD高发区,当地政府和卫生部门应采取有效的干预措施来减少这种疾病的危害。HRM法对SCD的鉴定准确性较高。Objective To investigate the epidemiological characteristics of the sickle cell disease （SCD） in local inhabits on Bioko Island, Equatorial Guinea. Methods During January 2013 to December 2013, 1 036 local inhabits were screened for SCD by sickle solubility test. Then, all the screening positive samples were identified by high-resolution melting （HRM） assay and PCR-DNA sequencing. Results The prevalence of SCD in local inhabits on Bioko Island was 16.99% （176/1 036）. SCD could all be efficiently identified by HRM analysis, and 100% concordance was found between the HRM analysis and the r PCR- DNA sequencing. Conclusion High prevalent SCD on Bioko Island indicated that the local health department and government should make efficiently strategy for the control of SCD in the region. HRM assay is a rapid, low-cost, accurate and high-throughput method to screen for SCD which is worthy to promote its use in high-prone areas of SCD in Africa.

关 键 词：镰刀形红细胞病 比奥科岛 高分辨熔解曲线分析 PCR—DNA测序 

分 类 号：R555[医药卫生—血液循环系统疾病]