Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

被引:13
|
作者
Lay-Son, Guillermo [1 ,2 ,3 ]
Puga, Alonso [1 ]
Astudillo, Pedro [4 ]
Repetto, Gabriela M. [1 ,3 ]
机构
[1] Univ Desarrollo, Clin Alemana, Fac Med, Ctr Human Genet, Santiago 7710162, Chile
[2] Hosp Dr Luis Calvo Mackenna, Santiago 7500539, Chile
[3] Hosp Padre Hurtado, Santiago 8880465, Chile
[4] Minist Salud Chile, Unidad Salud Resp, Santiago 7520378, Chile
关键词
CFTR; Cystic fibrosis; Chile; p.F508del; Alleles; IDENTIFICATION; POPULATION; DIAGNOSIS;
D O I
10.1016/j.jcf.2010.10.002
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
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 Quistica (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. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码:66 / 70
页数:5
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