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目的 调查广西柳州市城镇人口中α和 β地中海贫血 (地贫 )的发生率和基因突变类型及其构成比。方法 以整群抽样收集 10 2 8份其父母双方或一方为柳州市户口的新生儿脐带血及1312份柳州市户口的婚检育龄成人的外周静脉血 ,分别进行α地贫和 β地贫调查 ;所有样品均进行红细胞 (RBC)参数和血红蛋白 (Hb)电泳分析 ,以巴特血红蛋白 (HbBart’s)阳性者为α地贫 ,平均红细胞体积 (MCV) <85fl和HbA2 ≥ 4 .0 %为 β地贫阳性表型指标。采用基于PCR的基因分析方法进行α和 β地贫及 β地贫复合α地贫样品的确诊 ,对α或 β地贫表型阳性而未查出基因者 ,以家系成员的表型分析诊断。结果 10 2 8份脐带血样品中检出α基因携带者 112例 (包括 3例双重杂合子 ) ,α地贫基因携带率 11.19% ,共检出含 5种α地贫的等位基因 ,其构成比依次为 37.4 % ( SEA)、31.3%( α3.7)、17.4 % ( α4 .2 )、12 .1% (αCSα)和 0 .9% (αQSα)。 1312份成人外周静脉血样品中共发现 β地贫携带者 89例 ,基因携带率为 6 .78%。其中有 14例伴有胎儿血红蛋白 (HbF)增高 ,检出率 1.0 7%。在 89例 β地贫阳性样品中 ,有 16例 (占 18% )为 β地贫复合α地贫双重杂合子 ,共发现 9种不同的基因型 ,检出率为 1.2 2 %。该地区 3种最常见的基?
Objective To investigate the incidence and gene mutation types of alpha and beta thalassemia (thalassemia) and their constituent ratios in the urban population of Liuzhou City, Guangxi Province. Methods A total of 1028 peripheral blood samples were collected from neonates with umbilical cord blood of one or both parents of Liuzhou and 1312 pregnant women of reproductive age of Liuzhou registered with cluster sampling. All samples were analyzed by RBC parameters and hemoglobin (Hb) electrophoresis analysis. HbBart’s positive were α thalassemia, mean corpuscular volume (MCV) <85fl and HbA2 ≥ 4 .0% were positive for β-thalassemia Phenotypic indicators. The PCR-based genetic analysis was used to diagnose α-thalassemia and β-thalassemia α-thalassemia samples, and the phenotypic analysis of the members of the pedigree was used to diagnose the α or β thalassemia phenotype positive but not the gene. Results One hundred and twenty-two cases (including three cases of double heterozygote) of alpha gene carriers were detected in 1028 samples of umbilical cord blood, the allele of α-thalassemia gene was 11.19% The constituent ratios were 37.4% (SEA), 31.3% (α3.7), 17.4% (α4.2), 12.1% (αCSα) and 0.9% (αQSα) in turn. Among 1312 adult peripheral venous blood samples, 89 cases of β-thalassemia carriers were found, the gene carrying rate was 6.78%. Fourteen of them were associated with an increase in fetal hemoglobin (HbF), with a detection rate of 1.07%. Of the 89 β-thalassemia positive samples, 16 (18%) were β-thalassemia double-alpha loci heterozygotes, and 9 different genotypes were found, with a detection rate of 1.2 2%. The three most common bases in the area?