Screening of Lu(a-b-) phenotype in Shenzhen and a comparative study on the population polymorphism of genes related to the Lutheran blood group system
10.13303/j.cjbt.issn.1004-549x.2026.02.008
- VernacularTitle:深圳地区Lu（a-b-）表型筛查及Lutheran血型系统相关基因人群多态性比较研究
- Author:
Tong LIU
1
;
Fan WU
1
;
Liyan SUN
1
;
Jin QIU
2
;
Shuang LIANG
1
Author Information
1. Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen 518040, China
2. Xinjiang Uygur Autonomous Region People's Hospital, Urumchi 830001, China
- Publication Type:Journal Article
- Keywords:
lutheran blood group;
third-generation sequencing;
LUgene;
KLF1gene;
polymorphism
- From:
Chinese Journal of Blood Transfusion
2026;39(2):217-223
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the distribution frequency and molecular mechanism of the rare blood type Lu(a-b-) in Shenzhen, and to compare the polymorphisms of the Lutheran blood group system encoding gene LU and the In (Lu) phenotype-related gene KLF1 among Han Chinese, Indian, and Uyghur populations in Xinjiang. Methods: Serological methods were used to screen the Lu(a-b-) phenotype of blood donors in Shenzhen. Third-generation sequencing was employed to sequence the full-length of the LU and KLF1 genes in Lu (a-b-) phenotype samples as well as the samples from the Han Chinese, Indians, and Uyghur population, followed by analysis of gene haplotypes frequencies. Results: Ten individuals with the Lu(a-b-) phenotype were screened out of 14 367 blood donors in Shenzhen, yielding a frequency of approximately 0.07%. Only 2 cases showed mutations in the coding region of the LU gene, while all individuals showed heterozygous mutations in the coding region of the KLF1 gene. The highest mutation frequencies of the LU and KLF1 genes were observed in the Uyghur population in Xinjiang and the Han Chinese in Shenzhen, respectively. Conclusion: All Lu(a-b-) phenotypes are of the In (Lu) type, and their formation mechanism is mainly related to KLF1 gene mutations. Both the LU and KLF1 genes exhibit significant polymorphism in the Han Chinese, Indians, and Uyghur populations.
