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| 題 名 | Novel Cystic Fibrosis Mutation (2215InsG) in Two Adolescent Taiwanese Siblings=在兩位罹患囊性纖維症之臺灣青年兄妹發現新基因突變(2215insG) |
|---|---|
| 作 者 | 吳杰亮; 徐山靜; 江自得; | 書刊名 | 臺灣醫學會雜誌 |
| 卷 期 | 99:7 2000.07[民89.07] |
| 頁 次 | 頁564-567 |
| 分類號 | 415.121 |
| 關鍵詞 | 囊性纖維症; 基因突變; Cystic fibrosis; Sweat test; Cystic fibrosis transmembrane conductance regulator; |
| 語 文 | 英文(English) |
| 英文摘要 | Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with repeated airway infections, poor weight gain, clubbing of the fingers, hypoxemia, and obstructive ventilatory impairment. Multiple focal bronchiectases and emphysema were demonstrated on high-resolution computed tomography. Sweat chloride concentrations, as measured using the modified sweat chloride test in a closed space with a heater, were 327 mmol/L and 276 mmol/L, respectively. To confirm the CF diagnosis, DNA mutation analysis was performed. All 27 exons of the CF transmembrane conductance regulator (TR) gene and their flanking intron sequences were screened for nucleotide sequence alterations, and the mutations were then identified by direct DNA sequence analysis. Both siblings carried 1898+5���nT; a mutation previously identified in Taiwan. In addition, the mutation analysis identified a new single-base-insertion mutation in exon 13 on the second CFTR allele of these patients. This mutation, named 2215insG, is expected to cause a significant disruption of CFTR function. The 1898+5���nT/2215insG genotype is thus consistent with the CF diagnosis. A new missense mutation, S895N, in exon 15 of the CFTR gene, which cosegregated with 2215insG, was also identified in both of these patients. |
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