CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

Cystic Fibrosis Trans membrane conductance regulator ( CFTR ) gene is an asthma susceptibility gene. In the present study we investigated the possible association of CFTR gene mutations in Indian asthmatic children as compared to controls. The study included 250 asthmatics and 250 age and sex matche...

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Bibliographic Details
Published in:Indian journal of clinical biochemistry 2015-01, Vol.30 (1), p.35-42
Main Authors: Dixit, Pratibha, Awasthi, Shally, Maurya, Nutan, Agarwal, Sarita, Srinivasan, M.
Format: Article
Language:English
Subjects:
Asthma
Asthma in children
Biochemistry
Biomedical and Life Sciences
Chemistry/Food Science
Children & youth
Children's furniture
Cystic fibrosis
Disease susceptibility
Ethylenediaminetetraacetic acid
Gene mutations
Genes
Genetic aspects
Life Sciences
Microbiology
Mutation
Original
Original Article
Pathology
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Summary:Cystic Fibrosis Trans membrane conductance regulator ( CFTR ) gene is an asthma susceptibility gene. In the present study we investigated the possible association of CFTR gene mutations in Indian asthmatic children as compared to controls. The study included 250 asthmatics and 250 age and sex matched controls. Case to control ratio for sample size was 1:1. Genotyping was performed for 24 CFTR gene mutations by ARMS-PCR and PCR–RFLP method. Among 24 CFTR gene mutations, heterozygous allele of R553X mutation was found in 4 (1.6 %) asthmatic cases and 2 (0.8 %) controls. Value of FVC and FEV1/FVC ratio were significantly lower in heterozygous individuals ( p value
ISSN:0970-1915
0974-0422
DOI:10.1007/s12291-013-0400-6