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首页> 外文期刊>Journal of human genetics >Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.
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Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

机译：南印度β-地中海贫血的分子遗传学分析显示，β-珠蛋白基因罕见突变。

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摘要

beta-Thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal diagnosis. In the present study, the prevalence of beta-thalassemia was extensively investigated in the South Indian population, especially from the state of Andhra Pradesh. Screening for causal mutations was carried out on genomic DNA isolated from patient blood samples by using the routine reverse dot blot (RDB) and amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) techniques. DNA sequencing was performed wherever necessary. Among the nine mutations identified, four, including IVS-1-5 (G-C) (IVS1+5G>T), codon 41/42 (-TTCT) (c.124_127delTTCT), codon 15 (G-A) (c.47G>A), and HbS (sickle mutation) (c.20A>T) mutations, accounted for about 98% of the total positive cases. Two mutations viz. codon 8/9 (+G) (c.27_28insG) and HbE (codon 26 G-A) (c.79G>A) exhibited a very low frequency of occurrence, whereas the IVS-1-1 (G-T) (IVS1+1G>T) and the 619 bp deletion (c.366_494del) mutations were absent. We also identified certain rare mutations during the diagnostic evaluation. Gene sequencing confirmed the codon 30 (G-C) (c.92G>C) mutation and the rare codon 5 (-CT) (c.17_18delCT) and IVS-II-837 (T-G) (IVSII-14T>G) mutations. This is the first report of the IVS II 837 mutation in the Indian population. We also report a novel diagnostic application during RDB-based screening for the detection of the (c.92G>C) mutations. Such a comprehensive mutation screening is essential for prenatal diagnosis of beta-thalassemia and control of this highly prevalent monogenic disorder in the Indian population.
机译：β-地中海贫血是最流行的单基因疾病。由于没有可行的治疗形式，因此最好的方法是通过产前诊断进行预防。在本研究中，对β-地中海贫血的患病率进行了广泛的调查，尤其是在南印度人口中，尤其是在安得拉邦。通过使用常规反向斑点印迹（RDB）和扩增难治性突变系统-聚合酶链反应（ARMS-PCR）技术，对从患者血液样本中分离的基因组DNA进行因果突变的筛选。必要时进行DNA测序。在确定的9个突变中，有4个突变，包括IVS-1-5（GC）（IVS1 + 5G> T），41/42密码子（-TTCT）（c.124_127delTTCT），15密码子（GA）（c.47G> A ）和HbS（镰刀突变）（c.20A> T）突变，约占阳性病例总数的98％。两个突变即。密码子8/9（+ G）（c.27_28insG）和HbE（密码子26 GA）（c.79G> A）出现的频率很低，而IVS-1-1（GT）（IVS1 + 1G> T）和619 bp缺失（c.366_494del）突变不存在。我们还在诊断评估过程中发现了一些罕见的突变。基因测序证实了密码子30（G-C）（c.92G> C）突变和稀有密码子5（-CT）（c.17_18delCT）和IVS-II-837（T-G）（IVSII-14T> G）突变。这是印度人口中IVS II 837突变的首次报道。我们还报告了在基于RDB的筛选过程中检测（c.92G> C）突变的新型诊断应用程序。这种全面的突变筛选对于产前诊断β地中海贫血和控制印度人群中这种高度流行的单基因疾病至关重要。

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