Abstract
Cystic fibrosis (CF) is an autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7(7q31.2). The diagnosis is usually made clinically, supported by raised sweat chloride, although genotyping provides definitive confirmation and enables genetic counselling. Journal of the Postgraduate Institute of Medicine 2015;2:E17:1-3
Highlights
Cystic fibrosis (CF) is an autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7(7q31.2)
The child is compound heterozygous for delta F508 (dF508) and c.2738A>G (p.Y913C)
The most common mutant allele is the dF508 mutation which accounts for about 66% of all CF alleles worldwide3
Summary
Cystic fibrosis in a Sri Lankan infant, confirmed by genotyping: implications for future diagnosis and service provision. G A M Kularatnam, D Warawita, S Jayasena, S Nadarajah, E Jasinge, D Mendis, H Kennedy, C Florkowski, P George2 1Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, 2Canterbury Health Laboratories, Christchurch, New Zealand Key words: cystic fibrosis, Sri Lanka, sweat test, genotyping
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