中国实用内科杂志2017，Vol.37Issue(5)：373-375,379,4.DOI:10.19538/j.nk2017050105
肺动脉高压遗传检测与咨询
Genetic testing and consulting of pulmonary arterial hypertension
摘要
Abstract
Pulmonary arterial hypertension(PAH) is closely related to heredity.In recent years,with the disease-causing genes gradually becoming clear,the damand for PAH genetic testing and consulting has rapidly grown.Through genetic testing,we identify the etiology,helping to diagnose,treat,and stratify the disease;by identifying family members of patients with disease-causing mutations,we can provide risk warnings and early warnings without any clinical symptoms,and guide fertility.Genetic testing is gradually integrated into clinical decision-making and practice.This review described the recent progress and application of genetic testing and consulting of PAH in such aspects as clinical significance,target population,implementation methods and interpretation of results.关键词
肺动脉高压/遗传检测/致病基因Key words
pulmonary arterial hypertension/genetic testing/genetic consulting分类
医药卫生引用本文复制引用
王晓建,荆志成..肺动脉高压遗传检测与咨询[J].中国实用内科杂志,2017,37(5):373-375,379,4.基金项目
国家自然科学基金(81320108005,81630003,81670052) （81320108005,81630003,81670052）
