摘要
Dystrophin基因的变异可导致X连锁隐性遗传的肌肉疾病,包括进行性杜兴(杜氏)肌营养不良(DMD)、贝克(贝氏)肌营养不良(BMD)和扩张型心肌病,严重威胁人类的生命和健康。遗传学诊断对于这类患者的诊断、治疗、预防具有十分重要的价值。如何合理选择、规范应用各项基因检测技术是临床医师必须掌握的技能。本共识经过同行专家的共同探讨,结合国内外经验和指南,从遗传学诊断角度,针对dystrophin基因检测技术的选择、检测策略、检测流程等方面提供指导性建议。
Dystrophinopathies,including Duchenne muscular dystrophy,Becker muscular dystrophy and dilated cardiomyopathy,are X-linked recessive genetic disorders due to variants of the dystrophin gene,which can seriously affect quality of life and health.Genetic diagnosis plays a crucial role in their diagnosis,treatment,and prevention.How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire.By compiling expertise of experts from the relevant areas and guidelines published home and abroad,this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques,testing strategies,and detection process for dystrophinopathies.
作者
中国医师协会医学遗传医师分会
中华医学会儿科学分会罕见病学组
中国罕见病联盟
上海市医学会分子诊断专科分会
河南省医学会遗传医学专科分会
娄桂予
侯巧芳
张玉薇
祁娜
余永国
廖世秀
Medical Genetics Branch of Chinese Medical Association;Rare Diseases Group,Society of Pediatrics,Chinese Medical Association;The China Alliance for Rare Diseases;Molecular Diagnosis Branch of Shanghai Medical Association;Genetic Medicine Branch of Henan Provincial Medical Association;Lou Guiyu;Hou Qiaofang;Zhang Yuwei;Qi Na;Yu Yongguo;Liao Shiriu(不详;Institution of Medical Genetics of Henan Provincial People's Hospital,People's Hospital of Zhengzhou University,Zhengzhou,Henan 450003,China;Department of Pediatric Endocrinology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2023年第8期909-914,共6页
Chinese Journal of Medical Genetics
基金
国家重点研发计划(2019YFC1005103)
河南省医学科技攻关计划省部共建重大项目(SBGJ202101003)。
