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目的对5个δβ地中海贫血家系进行分析及产前诊断。方法采集家系成员外周血进行血细胞分析,应用毛细管电泳技术对血红蛋白进行分析,采用裂隙聚合酶链反应(Gap-PCR)以及PCR结合反向点杂交(PCR-RDB)方法对来自外周血及羊水、绒毛的αβ珠蛋白进行基因突变鉴定。结果检测到中国型~Gγ~+(~Aγδβ)~0地中海贫血携带者5例,中国型~Gγ~+(~Aγδβ)~0地贫复合β地贫导致的重型地中海贫血1例,3个胎儿为中国型~Gγ~+(~Aγδβ)~0地贫复合β地贫。结论对高风险家庭进行产前诊断避免重型地贫患儿的出生,对于优生优育具有重要意义。
Objective To analyze and prenatal diagnosis of 5 families of δβ thalassemia. Methods Blood samples were collected from peripheral blood of family members for hematology analysis. Hemoglobin was analyzed by capillary electrophoresis. Gap-PCR and PCR-RDB were used to analyze the hemoglobin, Fluff αβ globin gene mutation identification. Results Five Chinese carriers of ~ Gγ ~ + (~ Aγδβ) ~ 0 thalassemia were detected. One thalassemia major caused by β-thalassemia combined with ~ Gγ ~ + (~ Aγδβ) The fetus is a Chinese type ~ Gγ ~ + (~ Aγδβ) ~ 0 thalassemia complex β thalassemia. Conclusion Prenatal diagnosis of high risk families to prevent the birth of children with severe thalassemia major is of great significance for prenatal and postnatal care.