MOLECULAR SPECTRUM OF β-THALASSEMIA IN FUJIAN PROVINCE, SOUTHEASTERN CHINA
MOLECULAR SPECTRUM OF β-THALASSEMIA IN FUJIAN PROVINCE, SOUTHEASTERN CHINA
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DOI：
10.3109/03630269.2013.792274
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发表时间：
2013-01-01
期刊：
影响因子：
1
通讯作者：
Lin, Yuan
中科院分区：
文献类型：
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作者：
Huang, Hailong;Xu, Liangpu;Lin, Yuan
为了给β地中海贫血筛查、遗传咨询和产前诊断（PND）提供基础信息，我们对福建省100例β地中海贫血（β地贫）患者进行了基因突变特征分析。从1058名患者中共鉴定出16种不同的β-地中海基因突变。其中，IVS-II-654（C> T）和密码子41/42（-TCTT）是最普遍的突变，占总突变的76.3%。在福建人群中首次发现了6种基因突变，即IVS-I-1（G> T）、Cap +40~+43（-AAAC）、密码子30（A> G）、+22（G> A）、密码子54-58（-TTATGGGCAACCC）和起始密码子（ATG> AGG）。此外，在中国人中首次发现了+22（G> A）、密码子36（-C）和密码子30（A> G）的突变。这是在中华人民共和国福建省研究的第一个β-地中海突变的综合突变谱。
To provide basic information for beta-thalassemia (beta-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized beta-thal mutations in Fujian Province, Southeastern China. A total of 16 different beta-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (-TCTT) were the most prevalent, accounting for 76.3% of the total mutations. Six gene mutations, IVS-I-1 (G>T), Cap +40 to +43 (-AAAC), codon 30 (A>G), +22 (G>A), codons 54-58 (-TTATGGGCAACCC) and the initiation codon (ATG>AGG) were characterized for the first time in the Fujian population. Furthermore, the following mutations, +22 (G>A), codon 36 (-C) and codon 30 (A>G), were identified for the first time in Chinese individuals. This was the first comprehensive mutation spectrum of beta-thal mutations studied in Fujian Province, People's Republic of China (PRC).