Cornut Gilbert, Weng Xiaoduan, Robin Louise, Lavoie Catherine, Marchand Sylvain, Soulières Denis
Department of Haematology and Transfusion Medicine, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
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）。
