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目的调查桂林地区育龄妇女地中海贫血(地贫)的基因携带率、基因突变类型及其分布特征。方法连续采集1843名在桂林医学院附属医院来进行孕前检查及早孕检查并知情选择的育龄妇女外周静脉血。记录地贫筛查结果统计分析育龄妇女人群中α和β地贫的基因频率,突变类型及其分布的流行病学资料。结果 1843例外周血中检出220例α地贫携带者,α-地贫基因携带率为11.9%,常见α-地贫基因的基因构成比依次为64.78%(--SEA)、26.52%(-α3.7/αα)、8.70%(-α4.2/αα);共检出β-地贫携带者为133例,基因携带率为7.22%,所有样品均确定了基因型,共检出9种突变类型。结论桂林是地中海贫血病的高发地区,为了减少重症地贫的发生,提高人口素质,我们要采取合理的地贫筛查方案。
Objective To investigate the gene carrier rate, gene mutation type and distribution of thalassemia (thalassemia) in women of childbearing age in Guilin. Methods A total of 1843 peripheral venous blood of women of childbearing age who had been in pre-pregnancy and early pregnancy examination and informed choice were collected from 1843 affiliated hospitals in Guilin Medical College. The results of thalassemia screening were statistically analyzed for epidemiological data on the frequency and type of mutations and their distribution of alpha and beta thalassemia in women of childbearing age. Results A total of 220 cases of α-thalassemia carriers were detected in 1843 cases of peripheral blood. The carrier rate of α-thalassemia gene was 11.9%. The genetic constitutional ratios of common α-thalassemia gene were 64.78% (-SEA), 26.52% -α3.7 / αα) and 8.70% (- α4.2 / αα) respectively. A total of 133 cases of β-thalassemia carriers were detected and the gene carrier rate was 7.22%. All the samples were genotyped and were detected Nine types of mutations. Conclusion Guilin is a high prevalence area of thalassemia. To reduce the incidence of severe thalassemia and improve the population quality, we must adopt a reasonable screening plan for thalassemia.