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
,
2
,
3
;
Xiuzhang XU
1
,
2
,
3
;
Haoqiang DING
1
,
2
,
3
;
Jing DENG
1
,
2
,
3
;
Yangkai CHEN
1
,
2
,
3
;
Wenjie XIA
1
,
2
,
3
;
Xin YE
1
,
2
,
3
Author Information
1. Guangzhou Blood Center, Guangzhou 510091, China
2. Institute of Blood Transfusion and Hematology at Guangzhou Medical University, Guangzhou 510091, China
3. 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.
