【摘要】 用聚合酶链式反应体外选择性扩增β-珠蛋白基因的两个片段后,经与³²P中标记的寡核苷酸探针进行斑点印迹杂交及放射自显影检测,对3例具有β-地中海贫血（地贫）纯合子风险胎儿进行了产前基因诊断,查明1例为β-地贫杂合子β^{17（A—T）}/β^A;另2例分别为β^{17（A—T）}/β^{-28（A—G）}和β_{71-72（+A）}/β_{41-42（-4bp）}的复合杂合子。更多还原

【Abstract】 Twenty β-globin genes from 3 couples who had got newborns with β-thalassemia were prenatally diagnosed by hybridizing the PCR-amplified DNA with 32P-labelled allele-specific oligonucleotide probes in dot-blot format. The fetus in family I carried the codon 17 nonsense mutation from the mother but without codons 71/72 (+A) from the father and appeared as heterozygotes for β-tha-lassemia. The fetus in family Ⅰ carried -28(A→G) from the mother and codon 17 (A→T) from the father while the fetus in family Ⅲ carried β71/72(+) and 341/42(-4bp) respectively, so they appeared as ho-mozygotes for β3-thalassemia.更多还原