摘要
近年来,随着分子检测技术的发展,儿童罕见遗传病的检出率不断提高。根据染色体受影响的范围,遗传变异可分为4类:染色体水平变异、亚染色体水平变异、小尺度水平变异和特殊类型变异。对于不同类型的遗传变异,如何选择合适的检测方法至关重要。文章对4类遗传变异及其相应的分子检测技术进行总结,并指出分子检测技术在儿童罕见遗传病诊疗中的应用需结合患儿家庭实际情况和检测准确率综合考虑。另外,发布基于循证数据的相关指南或专家共识,有利于推动临床规范应用分子检测技术。
In the recent years,with the development of molecular detection techniques,the detection rate of rare gentic diseases in children has increased.According to the extent of chromosome affected,genetic variations can be classified into 4 categories:chromosome-level variation,sub-chromosome-level variation,small-scale-level variation and special type variation.It is crucial for different genetic variattions to choose the appropriate detection method.In this review,4 types of genetic variattions and their corresponding molecular detection techniques are summarized.The application of molecular detection techniques in the diagnosis and treatment of rare genetic diseases in children should be combined with the family actual situation and detection accuracy.Related guidelines or expert consensus should be issued to promote the clinical application of molecular detection techniques in children.
作者
荆梦霞
余永国
JING Mengxia;YU Yongguo(Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《检验医学》
CAS
2024年第2期103-106,共4页
Laboratory Medicine
基金
国家重点研发计划(2022YFC2703400)。
关键词
罕见病
遗传性疾病
儿童
分子检测
基因变异
Rare disease
Genetic disease
Children
Molecular detection
Genetic variation
