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首页> 外文期刊>The Application of Clinical Genetics >Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study
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Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

机译：泰国β地中海贫血儿童中β-珠蛋白基因突变的分子分析：单中心研究结果

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Background: Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. Objective: This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Hospital. Patients and methods: Eighty unrelated beta-thalassemia patients were enrolled in this study including 57 with beta-thalassemia/hemoglobin E, eight with homozygous beta-thalassemia, and 15 with heterozygous beta-thalassemia. Mutation analysis was performed by multiplex amplification refractory mutation system (M-ARMS), direct DNA sequencing of beta-globin gene, and gap polymerase chain reaction for 3.4 kb deletion detection, respectively. Results: A total of 13 different beta-thalassemia mutations were identified among 88 alleles. The most common mutation was codon 41/42 (-TCTT) (37.5%), followed by codon 17 (A>T) (26.1%), IVS-I-5 (G>C) (8%), IVS-II-654 (C>T) (6.8%), IVS-I-1 (G>T) (4.5%), and codon 71/72 (+A) (2.3%), and all these six common mutations (85.2%) were detected by M-ARMS. Six uncommon mutations (10.2%) were identified by DNA sequencing including 4.5% for codon 35 (C>A) and 1.1% initiation codon mutation (ATG>AGG), codon 15 (G>A), codon 19 (A>G), codon 27/28 (+C), and codon 123/124/125 (-ACCCCACC), respectively. The 3.4 kb deletion was detected at 4.5%. The most common genotype of beta-thalassemia major patients was codon 41/42 (-TCTT)/codon 26 (G>A) or betaE accounting for 40%. Conclusion: All of the beta-thalassemia alleles have been characterized by a combination of techniques including M-ARMS, DNA sequencing, and gap polymerase chain reaction for 3.4 kb deletion detection. Thirteen mutations account for 100% of the beta-thalassemia genes among the pediatric patients in our study.
机译：背景：β地中海贫血是泰国最常见的遗传性疾病之一。临床表型范围从无声携带者到临床表现的疾病，包括严重的重型β地中海贫血和轻度的β地中海贫血。目的：本研究旨在表征在Phramongkutklao医院随访的儿科患者中β-珠蛋白基因突变的范围。患者和方法：该研究招募了80名无关的β地中海贫血患者，包括57例β地中海贫血/血红蛋白E，8例纯合β地中海贫血和15例杂合性β地中海贫血。突变分析通过多重扩增难治性突变系统（M-ARMS），β-珠蛋白基因的直接DNA测序以及用于3.4 kb缺失检测的空位聚合酶链反应进行。结果：在88个等位基因中共鉴定出13个不同的β地中海贫血突变。最常见的突变是密码子41/42（-TCTT）（37.5％），其次是密码子17（A> T）（26.1％），IVS-I-5（G> C）（8％），IVS-II -654（C> T）（6.8％），IVS-I-1（G> T）（4.5％）和71/72（+ A）密码子（2.3％）以及所有这六个常见突变（85.2％ ）被M-ARMS检测到。通过DNA测序鉴定出6个不常见的突变（10.2％），包括4.5％的密码子35（C> A）和1.1％起始密码子突变（ATG> AGG），15号密码子（G> A），19号密码子（A> G）。 ，密码子27/28（+ C）和密码子123/124/125（-ACCCCACC）。在4.5％处检测到3.4kb的缺失。重型β地中海贫血患者最常见的基因型是密码子41/42（-TCTT）/密码子26（G> A）或betaE占40％。结论：所有β-地中海贫血等位基因均已通过多种技术进行了表征，包括M-ARMS，DNA测序和用于3.4 kb缺失检测的缺口聚合酶链反应。在我们的研究中，儿科患者中有13个突变占β地中海贫血基因的100％。

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