采用多重连接依赖探针扩增技术检测抗Lepore血红蛋白P-尼罗罗非鱼型
Detection of anti-Lepore Hb P-Nilotic by multiplex ligation-dependent probe amplification.
作者信息
Cui Jialing, Azimi Mahin, Adekile Adekunle D, Al Awadhi Hanan, Hoppe Carolyn C
机构信息
Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.
出版信息
Hemoglobin. 2012;36(3):276-82. doi: 10.3109/03630269.2012.660901. Epub 2012 Mar 2.
Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. We describe the application of multiplex ligation-dependent probe amplification (MLPA) to test for a suspected anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by electrophoresis and high performance liquid chromatography (HPLC). The results of MLPA revealed duplication of β and δ gene segments consistent with an anti-Lepore βδ fusion gene. Resolution of the hybrid gene by DNA sequencing identified the variant as Hb P-Nilotic (β31-δ50) HBB/HBD hybrid; HBB through 22; HBD from 50 (NG_000007.3:g.63290_70702dup). Multiples ligation-dependent probe amplification allows for rapid detection of hybrid globin variants caused by duplications in the β-globin gene locus.
抗 Lepore 血红蛋白（Hb）是罕见的βδ融合变体，由减数分裂期间的非同源交叉产生。我们描述了多重连接依赖探针扩增（MLPA）在检测一名个体中疑似抗 Lepore Hb 的应用，该个体在常规筛查中通过电泳和高效液相色谱（HPLC）检测到一种模糊的 Hb 变体。MLPA 结果显示β和δ基因片段重复，与抗 Leporeβδ融合基因一致。通过 DNA 测序解析杂交基因，确定该变体为 Hb P-Nilotic（β31-δ50）HBB/HBD 杂交体；HBB 至 22；HBD 从 50 开始（NG_000007.3:g.63290_70702dup）。多重连接依赖探针扩增可快速检测由β珠蛋白基因座重复引起的杂交珠蛋白变体。
Zotero 插件