A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System

作者：Rispoli Thaiane; de Castro Simone Martins; Grandi Tarciana; Prado Mayara; Filippon Leticia; Dornelles da Silva Claudia Maria; Vargas Jose Eduardo^*; Rosa Rossetti Lucia Maria

来源：Journal of Pediatrics, 2018, 199: 272-+.

DOI：10.1016/j.jpeds.2018.03.047

• Cystic fibrosis
• CFTR gene mutations
• Newborn screening
• Genotyping
• SNaPshot

Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

• 出版日期2018-8