Zeng R, Yu S, Hu B
Medical Genetics Department, Sun Yatsen University of Medical Sciences, Guangzhou 510089.
Zhonghua Xue Ye Xue Za Zhi. 1998 Oct;19(10):525-7.
To perform genetic diagnosis of alpha and beta thalassemia dual heterozygotes.
PCR and beta-thalassemia allele specific oligonucleotide probe/reverse dot blot(ASO/RDB) techniques were used.
Six cases of suspected alpha-thalassemia-1 and beta-thalassemia dual heterozygotes were found in genetic counseling and prenatal diagnosis. On genetic diagnosis, they were all Southeast Asia(SEA) type of alpha-thalassemia-1 and beta-thalassemia (--SEA/alpha alpha, beta T/beta A) dual heterozygotes. Out of them, 3 cases were alpha-thalassemia-1 and beta 41-42 (-TCTT), 2 were alpha-thalassemia-1 and beta-28(A-->T) and 1 was alpha-thalassemia-1 and beta IVS-II-654(C-->T) double heterozygotes.
The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.
对α和β地中海贫血双重杂合子进行基因诊断。
采用聚合酶链反应（PCR）及β地中海贫血等位基因特异性寡核苷酸探针/反向斑点杂交（ASO/RDB）技术。
在遗传咨询及产前诊断中发现6例疑似α地中海贫血-1与β地中海贫血双重杂合子。经基因诊断，均为东南亚（SEA）型α地中海贫血-1与β地中海贫血（--SEA/αα，βT/βA）双重杂合子。其中，3例为α地中海贫血-1与β41-42（-TCTT），2例为α地中海贫血-1与β-28（A→T），1例为α地中海贫血-1与βIVS-II-654（C→T）双重杂合子。
地中海贫血双重杂合子的检测有助于更精准地进行产前诊断。
Zotero 插件