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Identification and Characterization of CFTR Gene Mutations in Indian CF Patients
Author(s) -
Sharma N.,
Singh M.,
Kaur G.,
Thapa B. R.,
Prasad R.
Publication year - 2009
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2008.00477.x
Subject(s) - haplotype , genetics , cystic fibrosis transmembrane conductance regulator , δf508 , biology , allele , cystic fibrosis , mutation , gene , exon , microbiology and biotechnology
Summary Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This study was performed on Indian CF patients (n = 50) to investigate the spectrum of mutations in the CFTR gene and their association with intragenic and extragenic marker haplotypes. We report identification of 14 previously known and eight novel mutations, namely 3986‐3987delC, 876‐6del4, 1792InsA, L69H, S158N, Q493L, I530L and E1329Q. The frequency of delta F508 was found to be 27%. Absolute linkage between delta F508 and the KM.19‐GATT‐TUB9‐M470V‐T854T haplotype (2‐2‐1‐1‐1) predicts a relatively recent appearance of delta F508 in Indian CF patients. Low frequency of delta F508 mutation and detection of eight novel and thirteen rare mutations reflect a heterogeneous spectrum of mutations in Indian CF patients. Failure to detect mutations in 34% of alleles indicates the possible presence of gross deletions involving one or more exons or may indicate the location of the molecular defects in either the noncoding parts of the gene or in the promoter region, which warrants analysis of those regions.