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Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting genetic disorder in Caucasians; it also affec...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Biomedical Informatics
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546994/ https://www.ncbi.nlm.nih.gov/pubmed/26339151 http://dx.doi.org/10.6026/97320630011348 |
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author | Bepari, Karnajit Kumar Malakar, Arup Kumar Paul, Prosenjit Halder, Binata Chakraborty, Supriyo |
author_facet | Bepari, Karnajit Kumar Malakar, Arup Kumar Paul, Prosenjit Halder, Binata Chakraborty, Supriyo |
author_sort | Bepari, Karnajit Kumar |
collection | PubMed |
description | Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting genetic disorder in Caucasians; it also affects other ethnic groups like the Blacks and the Native Americans. Cystic fibrosis is considered to be rare among individuals from the Indian subcontinent. We analyzed a total of 29 world׳s populations for cystic fibrosis on the basis of gene frequency and heterozygosity. Among 29 countries Switzerland revealed the highest gene frequency and heterozygosity for CF (0.022, 0.043) whereas Japan recorded the lowest values (0.002, 0.004) followed by India (0.004, 0.008). Our analysis suggests that the prevalence of cystic fibrosis is very low in India. |
format | Online Article Text |
id | pubmed-4546994 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Biomedical Informatics |
record_format | MEDLINE/PubMed |
spelling | pubmed-45469942015-09-03 Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations Bepari, Karnajit Kumar Malakar, Arup Kumar Paul, Prosenjit Halder, Binata Chakraborty, Supriyo Bioinformation Hypothesis Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting genetic disorder in Caucasians; it also affects other ethnic groups like the Blacks and the Native Americans. Cystic fibrosis is considered to be rare among individuals from the Indian subcontinent. We analyzed a total of 29 world׳s populations for cystic fibrosis on the basis of gene frequency and heterozygosity. Among 29 countries Switzerland revealed the highest gene frequency and heterozygosity for CF (0.022, 0.043) whereas Japan recorded the lowest values (0.002, 0.004) followed by India (0.004, 0.008). Our analysis suggests that the prevalence of cystic fibrosis is very low in India. Biomedical Informatics 2015-07-31 /pmc/articles/PMC4546994/ /pubmed/26339151 http://dx.doi.org/10.6026/97320630011348 Text en © 2015 Biomedical Informatics This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License. |
spellingShingle | Hypothesis Bepari, Karnajit Kumar Malakar, Arup Kumar Paul, Prosenjit Halder, Binata Chakraborty, Supriyo Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title | Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title_full | Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title_fullStr | Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title_full_unstemmed | Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title_short | Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations |
title_sort | allele frequency for cystic fibrosis in indians vis-a/-vis global populations |
topic | Hypothesis |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546994/ https://www.ncbi.nlm.nih.gov/pubmed/26339151 http://dx.doi.org/10.6026/97320630011348 |
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