智利患者的囊性纤维化：36 种常见 CFTR 基因突变分析。
Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.
机构信息
Center for Human Genetics, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Av. Las Condes 12438, Lo Barnechea, Santiago, Chile.
出版信息
J Cyst Fibros. 2011 Jan;10(1):66-70. doi: 10.1016/j.jcf.2010.10.002. Epub 2010 Oct 30.
BACKGROUND
CFTR gene mutations have worldwide differences in prevalence and data on Chilean patients is scarce.
METHODS
We studied 36 of the most common CFTR mutations in Chilean patients from the CF National Program [Programa Nacional de Fibrosis Quística (PNFQ)] of the Ministry of Health of Chile.
RESULTS
Two hundred and eighty-nine patients were studied. Fourteen different mutations were identified with an overall allele detection rate of 42.0%. Mutations with frequencies greater than 1% were p.F508del (30.3% of alleles), p.R334W (3.3%), p.G542X (2.4%), c.3849+10Kb C>T (1.7%), and p.R553X (1.2%). A north to south geographical gradient was observed in the overall rate of detection.
CONCLUSIONS
Southern European CFTR mutations predominate in the Chilean population, but a high percentage of alleles remain unknown. Geographical heterogeneity could be explained in part by admixture. Complementary analyses are necessary to allow for effective genetic counselling and improve cost-effectiveness of screening and diagnostic tests.
背景
囊性纤维化跨膜电导调节因子（CFTR）基因突变在全球的流行率存在差异，智利患者的数据较为缺乏。
方法
我们研究了智利卫生部全国囊性纤维化计划（Programa Nacional de Fibrosis Quística，PNFQ）的 36 名智利患者中最常见的 14 种 CFTR 突变。
结果
共研究了 289 名患者。发现了 14 种不同的突变，总等位基因检出率为 42.0%。频率大于 1%的突变包括 p.F508del（等位基因的 30.3%）、p.R334W（3.3%）、p.G542X（2.4%）、c.3849+10Kb C>T（1.7%）和 p.R553X（1.2%）。整体检出率呈现出从北到南的地理梯度。
结论
欧洲南部 CFTR 突变在智利人群中占主导地位，但仍有很大比例的等位基因未知。地理异质性部分可以用混合来解释。需要进行补充分析，以便进行有效的遗传咨询，并提高筛查和诊断测试的成本效益。
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