新一代测序在地中海贫血筛查中的应用:系统回顾和荟萃分析

IF 1.9 4区医学 Q3 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Asian Pacific journal of tropical medicine Pub Date : 2023-02-01 DOI:10.4103/1995-7645.370147

Xingyi Fang, Y. Gong, Yanlin Ma, Yuan-hua Huang

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引用次数: 0

摘要

目的:评价下一代测序技术(NGS)在地中海贫血防治中的应用价值。方法:系统检索中国生物医学文献数据库、中国国家知识基础设施数据库、中国科学期刊数据库、万方数据库、PubMed、EMBASE、Web of Science、Cochrane Library等8个数据库，检索时间为建库至2022年6月1日。meta分析采用Stata 17.0和Review Manager 5.4。结果:9项研究共14794名受试者被纳入meta分析。与常规基因检测(Gap-PCR和反向点印迹)相比，NGS筛查地中海贫血的检出率更高(RR 1.22, 95% CI 1.13 ~ 1.31, P0.05)。结论:与常规基因检测相比，NGS对α-地中海贫血的检出率普遍较高。

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Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis

Objective: To evaluate the value of next-generation sequencing (NGS) in the prevention and management of thalassemia. Methods: A systematic search was performed in eight databases including China Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journals Database, Wanfang database, PubMed, EMBASE, Web of Science, and Cochrane Library from the inception to 1 June 2022. Stata 17.0 and Review Manager 5.4 were used for the meta-analysis. Results: Nine studies containing 14794 participants were included in the meta-analysis. Compared with the routine genetic testing (including Gap-PCR and reverse dot blot), NGS had higher detection rates in screening thalassemia (RR 1.22, 95% CI 1.13-1.31, P<0.01), particularly for the α-thalassaemia mutation carriers (RR 1.24, 95% CI 1.07-1.44, P<0.01). However, no significant difference was found in the screening of β-thalassemia (RR 1.10, 95% CI 0.99-1.23, P>0.05). Conclusions: Compared with routine genetic testing, NGS had a higher detection rate in general, particularly in the detection of α-thalassemia.

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来源期刊

Asian Pacific journal of tropical medicine PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-TROPICAL MEDICINE

CiteScore

4.00

自引率

9.70%

发文量

1936

审稿时长

3-8 weeks

期刊介绍： Asian Pacific Journal of Tropical Medicine (ISSN 1995-7645 CODEN: APJTB6), a publication of Editorial office of Hainan Medical University,is a peer-reviewed print + online Monthly journal. The journal''s full text is available online at http://www.apjtm.org/. The journal allows free access (Open Access) to its contents and permits authors to self-archive final accepted version of the articles on any OAI-compliant institutional / subject-based repository. APJTM aims to provide an academic communicating platform for international physicians, medical scientists, allied health scientists and public health workers, especially those of the Asia-Pacific region and worldwide on tropical medicine, infectious diseases and public health, and to meet the growing challenges of understanding, preventing and controlling the dramatic global emergence and re-emergence of infectious diseases in the Asia-Pacific. The journal is proud to have an international and diverse editorial board that will assist and facilitate the publication of articles that reflect a global view on tropical medicine, infectious diseases and public health, as well as emphasizing our focus on supporting the needs of public health practitioners. The APJTM will allow us to seek opportunities to work with others who share our aim, and to enhance our work through partnership, and to uphold the standards of our profession and contribute to its advancement.