A novel frameshift mutation (+A) at codon 18 of the β-globin gene associated with high persistence of fetal hemoglobin phenotype and δβ-thalassemia
A novel frameshift mutation (+A) at codon 18 of the β-globin gene associated with high persistence of fetal hemoglobin phenotype and δβ-thalassemia
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DOI：
10.1159/000114204
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发表时间：
2008-01-01
影响因子：
2.4
通讯作者：
Gambari, Roberto
中科院分区：
文献类型：
--
作者：
Feriotto, Giordana;Salvatori, Francesca;Gambari, Roberto
We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the beta-globin gene) associated with a deletion of the delta beta-globin gene region, in a patient exhibiting high persistence of fetal hemoglobin. The novel mutation causes a frameshift with the generation of a UGA stop codon. Analysis of the parent's DNA demonstrates that the A insertion and frameshift mutation are inherited from the father, while the delta beta-globin gene deletion is inherited from the mother. Gene dosage analysis and deletion-specific PCR demonstrate that the deletion is the (delta beta)(0) Sicilian deletion, involving a 13.4-kb delta beta-globin gene region. Copyright (c) 2008 S. Karger AG, Basel.
