α地中海贫血常见缺失决定因素的单管多重PCR筛查
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
作者信息
Chong S S, Boehm C D, Higgs D R, Cutting G R
机构信息
McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
出版信息
Blood. 2000 Jan 1;95(1):360-2.
Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha-thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)
α地中海贫血在世界所有热带和亚热带地区都非常常见。在东南亚和地中海地区，复合杂合子和纯合子可能患有轻度至重度贫血（血红蛋白[Hb]H病）或致命性贫血（Hb Bart水肿胎儿综合征）。我们针对α地中海贫血最常观察到的6种决定因素开发了一种可靠的单管多重聚合酶链反应（PCR）检测方法。该检测方法可对这些常见血液疾病进行简单、高通量的基因筛查。（《血液》。2000年；95：360 - 362）
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