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目的分析基因缺失突变导致的Gγ+(Aγδβ)0地中海贫血复合β地贫基因型与表型的关系,探讨Gγ+(Aγδβ)0地贫复合β地贫在高危β地贫家系的产前诊断方法。方法以表型与基因型对一家系进行分析。表型分析采用红细胞相关指标与血红蛋白电泳分析;用反向点杂交技术筛查β地贫基因突变;用跨越断裂点的三引物聚合酶链反应直接分析法检测Gγ+(Aγδβ)0地贫缺失突变;并对高危β地贫家系进行了产前指导。结果先证者(重症地贫)为一种Gγ+(Aγδβ)0地贫与β地贫双重杂合子,其Gγ+(Aγδβ)0地贫基因遗传自母方,β地贫遗传自父方。结论诊断出极罕见的缺失型Gγ+(Aγδβ)0地贫基因与β地贫移码突变的双重杂合子导致重型地贫高危儿。本病例诊断采用的技术简便、快速,可用作同类事件的参考,避免β重型地贫高危儿的出生。
OBJECTIVE: To analyze the relationship between Gγ + (Aγδβ) 0 thalassemia complex β thalassemia gene phenotype and phenotype induced by gene deletion mutation, and to explore the prenatal diagnosis of Gγ + (Aγδβ) 0 thalassemia β-thalassemia family in high risk β thalassemia pedigrees method. Methods The phenotype and genotype were used to analyze a pedigree. Phenotypic analysis using red blood cell-related indicators and hemoglobin electrophoresis; reverse dot blot hybridization screening of β-thalassemia mutations; using triple-primer PCR across the breakpoint direct analysis of Gγ + (Aγδβ) 0 thalassemia deletion Mutation; and high-risk β thalassemia pedigree prenatal guidance. Results The proband (severe thalassemia) was a double heterozygote of Gγ + (Aγδβ) 0 thalassemia and β thalassemia. The Gγ + (Aγδβ) 0 thalassemia gene was inherited from the maternal side and the β thalassemia gene was inherited from the paternal side. Conclusions Double heterozygotes diagnosed with extremely rare deletion type Gγ + (Aγδβ) 0 thalassemia gene and β thalassemia gene mutation lead to high risk of severe thalassemia. The technique used in the diagnosis of this case is simple, rapid and can be used as a reference for similar events to avoid the birth of high-risk β-thalassemia major.