Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Rawand Shamoon, Ahmed Yassin, Amir Charkaneh
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引用次数: 0

Abstract

Abstract β-thalassemia is one of the most common inherited autosomal disorders in the northern Iraqi Kurdistan region. This study reports a rare mutation in the initiation codon of the β-globin gene (HBB: c.2T > C; p.Met1Thr) in an 11-year-old male with severe transfusion-dependent β-thalassemia. Molecular testing to uncover the mutations of the β-globin gene in the proband and his parents was performed by amplification and reverse hybridization. Sanger sequencing was conducted for further identification. A severe β-globin gene mutation in codon 8/9 [+G] was initially identified in the proband and his mother’s DNA samples. However, the detection of only one β-globin gene mutation was not enough to elucidate the patient’s severe phenotype. Thus, a rare mutation in the initiation codon was identified later in the proband and his father by Sanger sequencing. In thalassemias, the presence of a rare mutation should be suspected when the patient’s genotype does not correlate with the phenotype.
β-珠蛋白基因起始密码子罕见突变(HBB:C. 2t > C)的检测P.Met1Thr)。
β-地中海贫血是伊拉克北部库尔德斯坦地区最常见的遗传性常染色体疾病之一。本研究报道了一种罕见的β-珠蛋白基因起始密码子突变(HBB: C . 2t > C;1例患有严重输血依赖性β-地中海贫血的11岁男性。先证者及其父母β-珠蛋白基因突变的分子检测方法为扩增和反向杂交。进行Sanger测序进一步鉴定。首先在先证者及其母亲的DNA样本中发现密码子8/9 [+G]严重的β-珠蛋白基因突变。然而,仅检测一个β-珠蛋白基因突变不足以阐明患者的严重表型。因此,后来在先证者和他的父亲通过桑格测序鉴定了一个罕见的起始密码子突变。在地中海贫血中,当患者的基因型与表型不相关时,应怀疑存在罕见突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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