摘要
地中海贫血(thalassemia,简称地贫)是世界上最常见的单基因遗传病之一,也是我国南方区域性高发的出生缺陷。降低重症地贫患儿的出生率是高发区重要的公共卫生问题。针对地贫患者的准确诊断需建立在对其发病遗传学机制充分了解的基础上。该文从以下方面对地贫发病相关的遗传学知识进行阐述:包括血红蛋白合成及转换调节、珠蛋白基因不平衡性贫血、致病基因突变及临床表型变异,以及修饰基因变异及对表型的影响等。特别是在高通量测序开始普及的条件下,基于NGS数据分析的遗传检测为临床表型变异的解释(即精准诊断)提供了实施基础。掌握上述知识将有助于临床医生为地贫患者及其亲属提供更有效的临床DNA检测和遗传咨询服务。
Thalassemia is one the most common single gene disorders worldwide.It is also one of the most common birth defects in South China.To prevent the birth of a fetus with severe thalassemias is an important public health issue in highincidence area.Accurate diagnosis of the thalassemia patients depends on the comprehensive consideration of the genetic pathogenesis of thalassemias.Here we make a brief introduc- tion of some fundamental genetic knowledge of thalassemias, including hemoglobin synthesis and hemoglobin switch,globin gene imbalance anemia,gene mutations and phenotype variation and effect of genetic modifier to the phenotype,etc.Especially,because deep sequencing has become popular,genetic testing based on NGS data provides an implementation basis for the accurate interpretation of clinical phenotypic variation (precise diagnosis).On the basis of a thorough understanding of the above information,clinicians should havethe ability to provide more effective DNA analysis and genetic counseling for the affected families.
作者
商璇
徐湘民
SHANG Xuan;XU Xiang-rain(Department of Medical Genetics,Southern Medical University,Guangzhou 510800,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第12期954-957,共4页
Chinese Journal of Practical Pediatrics
