Differences in Gene Mutations Between Chinese and Caucasian Cystic Fibrosis Patients

Overview

Journal Pediatr Pulmonol

Specialties Pediatrics
Pulmonary Medicine

Date 2016 Oct 8

PMID 27717243

Citations 11

Authors

Baoying Zheng

Ling Cao

Affiliations

Soon will be listed here.

Abstract

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.

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