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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...

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Detalles Bibliográficos
Autores principales: Bepari, Karnajit Kumar, Malakar, Arup Kumar, Paul, Prosenjit, Halder, Binata, Chakraborty, Supriyo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Biomedical Informatics 2015
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
Descripción
Sumario: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.