Origin of the codon 47 (+A) <i>β</i>‐thalassaemia mutation among the Nicobarese of the Andaman and Nicobar islands in India

Gorakshakar, Ajit; Das, Manoj; Phanasgaokar, Supriya P.; Nadkarni, Anita; Colah, Roshan; Mohanty, Dipika

doi:10.1111/j.1365-2141.2007.06792.x

Cited by 9 publications

(5 citation statements)

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“…Other community-based studies have shown the dominance of certain mutations in a community for example, the high rate (35.3%) of Codon 15 (G > A) mutation in Maharashtra, the high percentage of −88 (C > T) alleles in Jat-Sikh community and the high prevalence of Codon 5 (−CT) in Gujarat (79.7%) is associated with the Lohana and Prajapti communities in that state. [17] The present study consisted of 62 transfusion-dependent children in a cosmopolitan city of the central India with immigrants from various parts of the country besides the native population. Although community-specific studies provide a better picture of specific mutation, our preliminary study helps to provide an overall view, which can be further investigated at the community level.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India

Shrivastava

Bathri

Chatterjee

2019

Asian J Transfus Sci

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BACKGROUND:Thalassemia and hemoglobin (Hb) disorders are the most common genetic disorders among humans. These disorders entail huge morbidity, economic, and psychological burden on the families of the affected. Genetic counseling and prenatal diagnosis are the steps, which helps to reduce this burden. At present, there is paucity of data on the mutational spectrum of thalassemia from the central Indian region.METHODS:Blood samples were collected from 62 transfusion-dependent patients, demographic and relevant data were collected and screened for the two rare mutations − 88 (C-T) and CAP + 1 (A-G) using amplification refractory mutation system-polymerase chain reaction (PCR) and GAP PCR technique. PCR was performed for rare Hb disorders such as Hb Lepore and δ β chain disorder by GAP PCR in addition to five common Indian beta-thalassemia mutations IVS1-5 (G-C), IVS1-1 (G-T), Cd41/42 (−TCTT), Cd8/9 (+G), 619 bp deletion.RESULTS:Overall 93.5% of the mutations could be identified. Among the abnormal Hb, sickle cell and HbE were found at 4% and 3% of all the loci studied. We also reported two loci with Hb δ β and one locus with Hb Lepore in the present samples. IVS I-5 (G–C) was the common mutation (46%) followed by IVS I-1 (G–T) (12%) and 619 bp (9%).CONCLUSION:The identification of the genotypes helps to define the severity of the phenotype, plan therapy and form the basis of the comprehensive diagnostic database that would be useful not only for genetic counseling but prenatal diagnosis as well, contributing to the current focus of the National Policy to prevent and control hemoglobinopathies.

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Section: Discussionmentioning

confidence: 99%

Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India

Shrivastava

Bathri

Chatterjee

2019

Asian J Transfus Sci

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“…Codon 5(-CT) in Vatalia Prajapatis, codon 30(G > A) in Kachhi Patels, codon 47 (+A) among Nicobaris from Adaman and Nicobar islands, and Factor IX mutation (G10430A) in Gujarati population are some of the examples to be considered. [ 32 33 34 35 ]…”

Section: Discussionmentioning

confidence: 99%

Heterogeneity of O blood group in India: Peeping through the window of molecular biology

Gogri

Ray

Agrawal

et al. 2018

Asian J Transfus Sci

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BACKGROUND:Molecular genotyping of ABO blood group system has identified more than 60 “O” group alleles based on the single-nucleotide polymorphisms present in the ABO gene. Heterogeneity of O group alleles has been observed in various countries from South America, Europe, Middle East, and Asia. India is a vast country with more than 1300 million population which is divided into various ethnic and tribal groups. However, very little is known about the heterogeneity of O alleles in Indians.MATERIALS AND METHODS:A total of 116 O group individuals from the mixed population of Mumbai, India, were enrolled in the present study. DNA was extracted using the standard phenol–chloroform method. The exons 6 and 7 of the ABO gene were genotyped by polymerase chain reaction-single-strand conformation polymorphism and/or DNA sequencing. The genotyping results were compared with our earlier findings.RESULTS AND DISCUSSION:Overall, ten different genotypes were identified. Three rare alleles, namely, O05, O11, and O26 were seen in the mixed group category. These results suggest that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups. An important piece of information emerges out from this study, that is, O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide.CONCLUSION:In the future, molecular genotyping of the ABO blood group system among different ethnic and tribal Indian groups would help in generating data to fill up the gaps in the molecular ABO map of the world.

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“…The prevalence of IVS 1-5(G>C), the commonest mutation ranged from 44.8 % in the north to 71.4 % in the east. 38 The following rare mutations were found to be common in some communities: 35 There are many communities particularly in rural areas, which have not been studied, and this data needs to be generated.…”

Section: The Spectrum Of -Thalassemia Mutationsmentioning

confidence: 98%

“…Sixty-eight mutations have been characterized, [34][35][36] but this number keeps increasing as more studies are reported. The regional distribution of mutations is also known.…”

Section: The Spectrum Of -Thalassemia Mutationsmentioning

confidence: 99%

Control of Thalassemia in India

Colah

Gorakshakar

2014

Thalassemia Reports

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The -thalassemias and sickle cell disorders pose a major health burden in the large and diverse Indian population. Education programs for awareness generation are being done by National Institutions, non-governmental organizations and Thalassemia Societies in different states. Several extensive epidemiological studies have shown that there are many non-tribal and tribal communities where the prevalence of -thalassemia carriers is much higher (5.3 to 17.0%) than the average of 3 to 4% projected for the entire country. These variations have also been shown within small geographic regions in some states, emphasizing the need for micro mapping to estimate the true burden of disease. There are 10 to 12 centers where prenatal diagnosis for hemoglobinopathies is done and the Indian Council of Medical Research is establishing additional regional centers in states where they are most needed. Sixtyeight -thalassemia mutations have been described so far among Indians and the knowledge on their prevalence and regional distribution has helped to undertake prenatal diagnosis in a cost effective way. This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0). ©Copyright R.B.

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Origin of the codon 47 (+A) β‐thalassaemia mutation among the Nicobarese of the Andaman and Nicobar islands in India

Cited by 9 publications

References 7 publications

Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India

Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India

Heterogeneity of O blood group in India: Peeping through the window of molecular biology

Control of Thalassemia in India

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