Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA.
Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA.
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通过对单链富集扩增基因组 DNA 进行直接测序，对高 A2 β 地中海贫血进行分子表征。
DOI：
10.1182/blood.v73.4.924.924
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发表时间：
1989
期刊：
影响因子：
20.3
通讯作者：
D. Weatherall
中科院分区：
文献类型：
--
作者：
S. Thein;C. Hesketh;Jennifer M. Brown;AV Anstey;D. Weatherall
两个家庭，一个是盎格鲁-撒克逊-荷兰血统，另一个是西印度黑人，有一个非典型β地中海贫血的特点是异常高水平的血红蛋白A2的杂合子状态。限制性内切酶图谱显示β珠蛋白基因5'端缺失约1.35kb。通过对聚合酶链反应的新修改扩增的基因组DNA的特定区域进行直接测序，将缺失定义为1，393个碱基对（bp），并且在两个家族中相同。缺失从mRNA CAP位点5'的485 bp延伸到第二间插序列的中间。这种缺失，连同先前描述的去除β基因的5'端但保留δ基因完整的其他三种缺失，都与杂合状态下异常高水平的Hb A2相关。
Two families, one of Anglo-Saxon-Dutch descent, and the other, West Indian black, have an atypical beta thalassemia characterized by an unusually high level of Hb A2 in the heterozygous state. Restriction endonuclease mapping showed a deletion of about 1.35 kilobase (kb) in the 5' region of the beta globin gene. Direct sequencing of a specific region of genomic DNA amplified by a new modification of the polymerase chain reaction defined the deletion to be 1,393 base pairs (bp) and to be the same in both families. The deletion extends from 485 bp 5' to the mRNA CAP site to the middle of the second intervening sequence. This deletion, together with three others previously described that remove the 5' end of the beta gene but leave the delta gene intact, are all associated with unusually high levels of Hb A2 in the heterozygous state.