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^(32)P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。
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.
出处
《湖南医科大学学报》
CSCD
1990年第4期357-360,共4页
Bulletin of Hunan Medical University
关键词
地中海贫血
产前诊断
PCR
胎儿
thalassemia
prenatal diagnosis
polymerase chain reaction
