地中海贫血表型筛查和基因诊断的现状及展望  

Current situation and prospect of hematological phenotypic screening and genotyping of thalassemia

作　　者：周玉球[1] 

机构地区：[1]珠海市妇幼保健院检验科珠海市医学遗传研究所,519001

出　　处：《中华检验医学杂志》2012年第5期394-398,共5页Chinese Journal of Laboratory Medicine

基　　金：广东省科技计划项目（2009A030301002）;广东省自然科学基金资助项目（04101691）

摘　　要：地中海贫血（简称地贫）是人类最常见的单基因遗传性血液病，主要有α和β两种类型。严重类型地贫患儿的出生已成为一个重大公共卫生问题。通过基于大样本的遗传筛查（即检出地贫基因携带者或杂合子）和针对发现的高风险家庭实施产前诊断是目前公认的降低该病出生率的有效途径。临床上可通过血液学表型筛查（红细胞指标测定结合Hb分析），必要时采用DNA诊断技术检出地贫杂合子。全血细胞计数和高效液相色谱（HPLC）或适宜的其他替代技术如毛细管电泳（CE）已成为地贫血液学表型筛查的主要技术手段和临床一线筛查技术，跨越断裂点PCR（gap—PCR）和反向点杂交（RDB）技术是国内外应用最为广泛的检测缺失型和非缺失型（点突变）地贫的基因诊断方法，而基于实时荧光PCR和基因芯片等地贫分子诊断技术则有着巨大的应用前景。Thalassemias are among the commonest monogenic disorders in human, including α-and β-two primary types. The birth of fetuses with severe thalassemia has been an important public health problem. It is proved to he highly effective in reducing dramatically severe thalassemia that by the large-scale population based carrier （heterozygote） screening for thalassemias and by the prenatal diagnosis aimed at the couples at risk for severe thalassemia. These heterozygotes of thalassemias can be detected by hematological phenotypie examination （RBC indices in conjunction with measurement of Hb A2 level） and by DNA analysis when necessity. Full blood count （FBC） and HPLC or suitable alternative technique such as capillary electrophoresis（CE） has become the main technical means of hematological phenotypes and the first line clinical technique screening for thalassemias. Gap-PCR and reverse dot blot （RDB） detecting deletional and non-deletional （point mutations） thalassemias respectively have been most universal genotyping methods in clinical appliance at home and abroad, Moreover, real-time fluorescent PCR- and gene chip-based ere used for molecular diagnosis of this disease will have tremendous application prospect.

关 键 词：地中海贫血 表型 遗传筛查 基因诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]