{"title":"金奈居民β地中海贫血分子谱研究","authors":"Bhuvana Selvaraj, Ganesan Subramanian, Senthil Kumar Ramanathan, S. Soundararajan, Shettu Narayanasamy","doi":"10.3934/molsci.2022007","DOIUrl":null,"url":null,"abstract":"Beta thalassemia is caused by a mutation in the human beta globin gene. More than 400 causative mutations have been characterized in the Hemoglobin Subunit Beta (HBB) gene. These causative mutations are present in the beta globin gene or the regulatory region. Though more than 400 causative mutations of HBB region have been described, rare and novel mutations are being reported in studies indicating the need for characterization of mutations in all regions and information regarding the same should be made available for successful implementation of prenatal diagnosis. The study aims to characterize the spectrum of beta thalassemia mutations in beta thalassemia heterozygous among residents of Chennai. A total of 5,207 cases were screened for beta thalassemia heterozygous by HPLC method. 387 beta thalassemia heterozygous identified by HPLC method were subjected to molecular DNA analysis by ARMS PCR technique and DNA Sanger sequencing for the characterization of causative beta thalassemia mutations. In the present study molecular characterization of beta thalassemia mutations revealed 30 different mutations with a high prevalence of IVS 1-5 (G-C) mutation, five new rare mutations viz., IVS II-1 (G>T), CD 37 TGG-TGA, IVS II 781 (C-G), CD114 CTG-CCG and Poly A (A-G) were diagnosed and reported first in India. One novel beta thalassemia mutation HBB.c319DelC was detected in the study. The diagnostic outcome of detecting the causative mutations for beta thalassemia imposes strong resources for developing easy and cheaper methods for prenatal diagnosis which will reduce the burden of disease.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":"1 1","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Studies on molecular spectrum of beta thalassemia among residents of Chennai\",\"authors\":\"Bhuvana Selvaraj, Ganesan Subramanian, Senthil Kumar Ramanathan, S. Soundararajan, Shettu Narayanasamy\",\"doi\":\"10.3934/molsci.2022007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Beta thalassemia is caused by a mutation in the human beta globin gene. More than 400 causative mutations have been characterized in the Hemoglobin Subunit Beta (HBB) gene. These causative mutations are present in the beta globin gene or the regulatory region. Though more than 400 causative mutations of HBB region have been described, rare and novel mutations are being reported in studies indicating the need for characterization of mutations in all regions and information regarding the same should be made available for successful implementation of prenatal diagnosis. The study aims to characterize the spectrum of beta thalassemia mutations in beta thalassemia heterozygous among residents of Chennai. A total of 5,207 cases were screened for beta thalassemia heterozygous by HPLC method. 387 beta thalassemia heterozygous identified by HPLC method were subjected to molecular DNA analysis by ARMS PCR technique and DNA Sanger sequencing for the characterization of causative beta thalassemia mutations. In the present study molecular characterization of beta thalassemia mutations revealed 30 different mutations with a high prevalence of IVS 1-5 (G-C) mutation, five new rare mutations viz., IVS II-1 (G>T), CD 37 TGG-TGA, IVS II 781 (C-G), CD114 CTG-CCG and Poly A (A-G) were diagnosed and reported first in India. One novel beta thalassemia mutation HBB.c319DelC was detected in the study. 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引用次数: 0
摘要
地中海贫血是由人类-珠蛋白基因突变引起的。血红蛋白亚单位β (HBB)基因中有400多种致病突变。这些致病突变存在于-珠蛋白基因或调控区域。虽然已经描述了400多个HBB区域的致病突变,但研究中正在报道罕见和新颖的突变,这表明需要对所有区域的突变进行表征,并应提供有关这些突变的信息,以成功实施产前诊断。本研究旨在描述金奈居民β -地中海贫血杂合突变谱。采用高效液相色谱法对5207例杂合型地中海贫血进行筛查。采用HPLC法鉴定的387例β -地中海贫血杂合子,采用ARMS PCR技术进行分子DNA分析和DNA Sanger测序,鉴定β -地中海贫血致病突变。在本研究中,发现了30种不同的地中海贫血突变,其中IVS 1-5 (G- c)突变高发,IVS II-1 (G b> T)、cd37 TGG-TGA、IVS II 781 (C-G)、CD114 CTG-CCG和Poly a (a -G) 5种新的罕见突变在印度首次被诊断和报道。一种新的-地中海贫血突变HBB。研究中检测到c319DelC。检测地中海贫血致病突变的诊断结果为开发简单和廉价的产前诊断方法提供了强大的资源,这将减少疾病负担。
Studies on molecular spectrum of beta thalassemia among residents of Chennai
Beta thalassemia is caused by a mutation in the human beta globin gene. More than 400 causative mutations have been characterized in the Hemoglobin Subunit Beta (HBB) gene. These causative mutations are present in the beta globin gene or the regulatory region. Though more than 400 causative mutations of HBB region have been described, rare and novel mutations are being reported in studies indicating the need for characterization of mutations in all regions and information regarding the same should be made available for successful implementation of prenatal diagnosis. The study aims to characterize the spectrum of beta thalassemia mutations in beta thalassemia heterozygous among residents of Chennai. A total of 5,207 cases were screened for beta thalassemia heterozygous by HPLC method. 387 beta thalassemia heterozygous identified by HPLC method were subjected to molecular DNA analysis by ARMS PCR technique and DNA Sanger sequencing for the characterization of causative beta thalassemia mutations. In the present study molecular characterization of beta thalassemia mutations revealed 30 different mutations with a high prevalence of IVS 1-5 (G-C) mutation, five new rare mutations viz., IVS II-1 (G>T), CD 37 TGG-TGA, IVS II 781 (C-G), CD114 CTG-CCG and Poly A (A-G) were diagnosed and reported first in India. One novel beta thalassemia mutation HBB.c319DelC was detected in the study. The diagnostic outcome of detecting the causative mutations for beta thalassemia imposes strong resources for developing easy and cheaper methods for prenatal diagnosis which will reduce the burden of disease.