Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: A pilot study
| Autor: | Seo Yi Chng, Kian Chung Ong, Lynette Pei-Chi Shek, Daniel Y.T. Goh, Denise L.M. Goh, Gare Hoon Yeo, Samuel S. Chong, Nicola Ngiam |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Pulmonary and Respiratory Medicine Pathology medicine.medical_specialty Mutation Missense Cystic Fibrosis Transmembrane Conductance Regulator Gene mutation medicine.disease_cause Cystic fibrosis CFTR mutations Asian People Risk Factors Medicine Missense mutation Humans Genetic Predisposition to Disease Genetic Testing Pediatrics Perinatology and Child Health Allele Allele frequency Aged Mutation Bronchiectasis Polymorphism Genetic biology business.industry Middle Aged medicine.disease Cystic fibrosis transmembrane conductance regulator Asthma Asians Case-Control Studies Pediatrics Perinatology and Child Health Immunology biology.protein Female business |
| Zdroj: | Journal of Cystic Fibrosis. 5(3):159-164 |
| ISSN: | 1569-1993 |
| DOI: | 10.1016/j.jcf.2006.02.002 |
| Popis: | BackgroundLittle is known about the relationship between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asian patients and severe asthma or idiopathic bronchiectasis. We investigated this potential relationship in the Singaporean Chinese.MethodsTwenty patients with chronic pulmonary disease, 14 with severe asthma and 6 with idiopathic bronchiectasis, were screened for CFTR mutations by direct gene sequencing. The frequencies of identified putative mutations were compared against 40 unaffected controls and 96 unselected population samples.ResultsThree missense mutations (I125T, I556V, and Q1352H) and 1 splice site variant (intron 8 12TG5T) were identified in a total of 10 patients, representing a combined mutant/variant allele frequency of 0.25. These alleles were also observed in the controls, but at a significantly lower allele frequency of 0.09 (P |
| Databáze: | OpenAIRE |
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