Whole-genome polymorphism of CD36 by third-generation sequencing technology
Year: 2025
Type: article
Abstract: [Objective] To analyze CD36 gene by PacBio Sequel Ⅱ the third-generation sequencing technology (TGS), including non-coding sequence, and to investigate the molecular mechanism of CD36 deficiency. [Methods] Flow cytometry was performed in the southern Chinese population to detect the CD36 phenotype. Among them, 15 cases of CD36 type I deficiency, 15 cases of CD36 type Ⅱ deficiency, and 10 positive samples were selected. The TGS of the CD36 gene was performed and statistical analysis was conducted. [Results] 40 samples (including 15 cases of type I deficiency, 15 cases of type Ⅱ deficiency, and 10 positive samples) were subjected by TGS of CD36 full-length sequences (except part of intron1). A total of 180 polymorphic loci were identified. Among them, 13 kinds were in the coding region, the rest were in non-coding region, with most mutations located in regulatory regions such as the 5′-UTR and 3′-UTR. [Conclusion] The high polymorphism of CD36 non-coding regions, particularly in regulatory sequences, provides mechanistic insights into type Ⅱ CD36 deficiency.
Authors: LIU Jing, XU Xiuzhang, DING Haoqiang, DENG Jing, CHEN Yangkai, XIA Wenjie, YE Xin
Institution: Guangzhou Blood Center
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W6960677561
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