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【目的】分析中山市户籍人群中α-地中海贫血的分子流行病学特征,为有效预防提供参考依据。【方法】以分层抽样采集2500例中山市户籍新生儿脐血,用HPCE测定HbBart’s作为诊断α-地贫的阳性参考指标,对阳性样品用gap-PCR和RDB法进行α-地贫基因分型,并在所有被检样品中进行两种常见静止型α-地贫基因(-α3.7/和-α4.2/)的分子筛查。对未知突变进行PCR产物直接测序法、MLPA及家系表型分析等。【结果】在2500例脐带血样本中,经基因检测,255例被确诊为α-地贫基因型(含258个突变等位基因)。检出HbBart’s阳性样品183例,有83例α3.7/αα、α4.2/αα和2例-SEA/αα基因携带者检出自HbBart’s阴性样品中。中山市户籍人群中α-地贫基因携带率为10.32%(258/2500);4种已知α-地贫基因的构成比依次为54.65%(-SEA/)、33.33%(α3.7/)、11.24%(α4.2/)和0.78%(αCSα/)。【结论】中山市户籍人群中α-地贫基因携带率高,检出4种基因突变类型(-SEA/、-α3.7/、-α4.2/和αCSα/),以-SEA/为主,开展α-地贫的预防工作具有重要意义。
【Objective】 To analyze the molecular epidemiological characteristics of α-thalassemia in census-resident population in Zhongshan and to provide a reference for effective prevention. 【Method】 2500 cases of neonatal umbilical cord blood from Zhongshan residents were collected by stratified sampling. HbBart’s was used as a positive reference index for diagnosing α-thalassemia by HPCE. The positive samples were analyzed by gap-PCR and RDB , And molecular screening of two common, stationary α-thalassemia genes (-α3.7 / and -α4.2 /) was performed in all samples tested. PCR products for unknown mutations direct sequencing method, MLPA and family phenotype analysis. 【Results】 Of the 2500 cases of cord blood samples, 255 cases were diagnosed as α-thalassemia gene (including 258 mutant alleles) by genetic testing. HbBart’s positive samples were detected in 183 cases, of which 83 cases of α3.7 / αα, α4.2 / αα and 2 cases of -SEA / αα gene carriers were detected in HbBart’s negative samples. The carriage rate of α-thalassemia gene in Zhongshan population was 10.32% (258/2500). The proportions of the four known α-thalassemia genes were 54.65% (-SEA /), 33.33% (α3.7 / ), 11.24% (α4.2 /) and 0.78% (αCSα /). 【Conclusion】 The population of a-thalassemia carriers in Zhongshan population is high, and four gene mutation types (-SEA /, - α3.7 /, - α4.2 / and αCSα /) were detected. Lord, to carry out the prevention of α-thalassemia is of great significance.