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Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients
Author(s) -
Zheng Baoying,
Cao Ling
Publication year - 2017
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23539
Subject(s) - cystic fibrosis , medicine , cystic fibrosis transmembrane conductance regulator , mutation , gene , chinese population , genetics , gene mutation , genotype , biology
Summary Cystic fibrosis (CF) is rarely seen in Asian populations. We diagnosed two CF cases. One of them had a novel mutation c.870‐1G>C in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There have been 38 Chinese CF patients reported in literature from 1974 until the present (2016), 25 different mutations were identified. Only one of these mutations (R553X) is in the Caucasian CF screening panel. The mutations identified in Chinese CF patients are very different from the common Caucasian gene mutations. The CFTR gene mutation spectrum for the Chinese population requires further investigation. Pediatr Pulmonol. 2017;52:E11–E14. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.