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目的调查佛山市南海地区新婚夫妇人群中α和β地中海贫血(简称地贫)的发生率、基因突变类型及其构成比。方法 12 092份双方均为佛山市南海区户籍的成人婚检对象的静脉血,分别进行α地贫和β地贫调查。所有样品均采用MCV法进行初筛地贫,以静脉血平均红细胞体积(MCV≤80)作为诊断地贫的阳性参考指标。再应用Gap-PCR和反向点杂交技术(RDB-PCR)对部分样品进行α地贫基因和β地贫基因定型。结果在12 092例中筛查阳性1679例,进行基因分型的1210例;其中检出7种α-地贫基因型643例,α-地贫等位基因(染色体)656个,人群基因携带率为7.53%;检出9种β-地贫基因型325例,β-地贫等位基因(染色体)325个,人群基因携带率为3.73%;其中包括28例β-地贫合并α-地贫个体。
Objective To investigate the incidence of α and β thalassemia (thalassemia) and gene mutation types and their constituent ratios in the newlyweds in the Nanhai District of Foshan City. Methods A total of 12 092 patients were enrolled in the Nanhai District of Foshan City, the adult premarital venous blood samples, respectively, α thalassemia and β thalassemia survey. All samples were preliminarily screened for thalassemia with MCV method, and venous mean volume of erythrocytes (MCV≤80) was used as a positive reference for diagnosis of thalassemia. Then some samples were subjected to the determination of α thalassemia gene and β thalassemia gene by Gap-PCR and reverse dot blot (RDB-PCR). Results Among the 12 092 cases, 1679 were positive for screening and 1210 were genotyped. Among them, 643 cases of 7 α-thalassemia and 656 alleles (α-thalassemia) (chromosome) were detected in the population. 325 cases of 9 β-thalassemia genes and 325 β-thalassemia alleles (chromosomes) were detected. The population gene carrier rate was 3.73%. Among them, 28 cases of β-thalassemia combined with α- Thais individual.