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利用ζ珠蛋白基因的限制性内切酶HindⅢ特异片段长度多态性分析,鉴别了一个非缺失型HbH病患儿及其父母的单体型,并对该家系正在妊娠中的重型HbH危险胎儿进行了早期产前诊断,确定其基因型为(αα/αα~T)。
Using the ζ globin gene restriction endonuclease Hind Ⅲ specific fragment length polymorphism analysis to identify a non-deletion type HbH patients and their parents haplotype, and the family is in pregnancy in severe HbH risk fetus Early prenatal diagnosis was performed to determine the genotype (αα / αα ~ T).