Molecular diagnosis of cystic fibrosis in South African populations

Leisegang, F; Westwood, A T R

Molecular diagnosis of cystic fibrosis in South African populations

Journal Article

2003

Journal Title

South African Medical Journal

Link to Journal

http://www.samj.org.za/index.php/samj

Publisher

University of Cape Town

Department

Department of Anaesthesia

Faculty

Faculty of Health Sciences

Abstract

Cystic fibrosis (CF) is present in all South African population groups. In a significant proportion of patients a diagnosis of CF can be confirmed by DNAanalysis and the detection of two CF transmembrane conductance regulator (CFTR) mutations, using the panels of mutations developed in this study. The index of suspicion will also be raised in patients with a single CFTR mutation. DNAtesting is important, especially in region s without access to reliable sweat tests, and should be considered an aid to diagnosis. In addition to receiving appropriate treatment, patients and their families can receive more accurate genetic counselling, CF carrier testing and prenatal diagnosis.

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