Whole-genome polymorphism of CD36 by third-generation sequencing technology
10.13303/j.cjbt.issn.1004-549x.2025.05.003
- VernacularTitle:第三代测序技术对CD36全基因组多态性的初探
- Author:
Jing LIU
1
;
Xiuzhang XU
1
;
Haoqiang DING
1
;
Jing DENG
1
;
Yangkai CHEN
1
;
Wenjie XIA
1
;
Xin YE
1
Author Information
1. Guangzhou Blood Center, Guangzhou 510091, China; Institute of Blood Transfusion and Hematology at Guangzhou Medical University, Guangzhou 510091, China; Guangzhou Key Laboratory of Blood Safety, Guangzhou 510091, China
- Publication Type:Journal Article
- Keywords:
CD36;
the third-generation sequencing technology;
molecular mechanism
- From:
Chinese Journal of Blood Transfusion
2025;38(5):610-614
- CountryChina
- Language:Chinese
-
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.
