The molecular genetics and pathogenesis of cystic fibrosis lung disease. Buletin Persatuan Genetik Malaysia, 12 (2). pp. 10-17. ISSN 1394-5750 (2006)
Abstract
Cystic Fibrosis (CF) is a life-threatening inherited disease that particularly affects the airways and digestive systems, which is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CF is considered as the most common autosomal recessive disorder in the Caucasian population. However, the prevalence of this disease amongst Asians is considered to be low, hence the lack of awareness of this disease amongst geneticists and physicians in Malaysia. This review will describe the features of CF, its molecular genetics, the current classification of CFTR mutation classes, the genotypephenotype correlations, the effects of modifier genes, and the discourse of the disease pathogenesis, in the hope of raising public awareness of the condition and ultimately to improve the clinical and social care of those affected by CF in Malaysia.
| Item Type: | Article |
|---|---|
| Keywords: | Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic disorders |
| Taxonomy: | By Niche > Genome > Genomes By Niche > Genome > Human Genome |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Rizana Mohd Radwan |
| Date Deposited: | 16 Jul 2024 06:18 |
| Last Modified: | 16 Jul 2024 06:18 |
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