Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

ABSTRACT:

Background

Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS.

Methods

Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China. All of them underwent common thalassemia gene testing using the DNA reverse dot-blot hybridization technology. Subjects who were suspected as rare thalassemia carriers were further subjected to TGS to identify rare or novel α- and β-globin gene variants, and the results were verified by Sanger sequencing and/or gap PCR.

Results

Of the 6,174 included subjects, 2,39

SUBMITTER: Zhuang J 

PROVIDER: S-EPMC11445875 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature