Thalassemia is most widely distributed single gene autosome recessive genetic disease in the world, whose clinical manifestation was changed from asymptomatic anemia to severe anemia requiring continous blood transfusion to maintain life, thus resulting in a serious economic burden to society and families. Therefore, it is necessary to carry out the corresponding prentatal screening and diagnosis. Most of the conventional detection methods can only detect the common thalassemia genotype, it can easy to cause misdiagnosis or missed diagnosis for those rate genetic variantions. The third-generation sequecing (TGS) has been applied to the detection of thalassemia genes, which is more accurate, reliable and superior to the converntional detection methods. This article reviews the latest research progress of the TGS technology in genetic testing of thalassemia.
题目: 基于第三代基因测序对地中海贫血基因检测的研究进展.
摘要: . 地中海贫血是世界上分布最广泛的单基因常染色体隐性遗传病，其临床表现从无症状到需要持续输血来维系生命的严重贫血，这对社会及家庭造成了严重的经济负担，因此，在产前进行相应的筛查与诊断很有必要。常规的检测方法大多只能检测出常见的地中海贫血基因型，对于罕见的基因变异容易造成误诊或漏诊，这对于临床遗传咨询造成一定困难。第三代基因测序（Thirdgeneration sequencing，TGS）目前已应用于地中海贫血基因的检测，相较于常规检测方法，其更加准确、可靠，更具有优越性。本文就第三代基因测序技术在地中海贫血基因检测方面的最新研究进展作一综述。.
Keywords: thalassemia； third-generation gene sequecing； comprehensive analysis of thalassemia; single molecular real-time sequencing; long read sequencing.