β-珠蛋白基因中的一种新插入突变[密码子45/46（+A）]，导致轻度β地中海贫血表型。
A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype.
作者信息
Cornut Gilbert, Weng Xiaoduan, Robin Louise, Lavoie Catherine, Marchand Sylvain, Soulières Denis
机构信息
Department of Haematology and Transfusion Medicine, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
出版信息
Hemoglobin. 2007;31(3):393-5. doi: 10.1080/03630260701462162.
The beta-globin gene of 306 newly diagnosed beta-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a beta(+)-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated beta-globin or abnormal hemoglobin (Hb) was identified.
对306例新诊断的轻型β地中海贫血（β-地贫）患者的β珠蛋白基因进行了测序。分析显示，在所有已鉴定的突变中，只有一种此前未被报道。这种导致β（+）-轻型地贫表型的新突变，发现于一名阿拉伯裔患者。密码子45和46之间的插入移码突变（+A）[密码子45/46（+A）]导致在密码子52处出现过早终止信号。未鉴定到截短的β珠蛋白或异常血红蛋白（Hb）。
Zotero 插件