中国输血杂志2025，Vol.38Issue(5)：610-614,5.DOI:10.13303/j.cjbt.issn.1004-549x.2025.05.003
第三代测序技术对CD36全基因组多态性的初探
Whole-genome polymorphism of CD36 by third-generation sequencing technology
摘要
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 defi-ciency,15 cases of CD36 type Ⅱ deficiency,and 10 positive samples were selected.The TGS of the CD36 gene was per-formed 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.关键词
CD36/三代测序技术/分子机制Key words
CD36/the third-generation sequencing technology/molecular mechanism分类
医药卫生引用本文复制引用
刘静,徐秀章,丁浩强,邓晶,陈扬凯,夏文杰,叶欣..第三代测序技术对CD36全基因组多态性的初探[J].中国输血杂志,2025,38(5):610-614,5.基金项目
广州市科技计划项目(2023A03J0997、2024A03J0375、2023A03J0549、2025A03J3369) （2023A03J0997、2024A03J0375、2023A03J0549、2025A03J3369）
广东省自然科学基金面上项目(2024A1515012652) （2024A1515012652）
广州市医学重点学科(2025-2027) （2025-2027）
