[Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):238-41. doi: 10.3760/cma.j.issn.1003-9406.2014.02.024.
[Article in Chinese]

Abstract

Objective: To study the frequency of rare blood group Lu(a-b-) phenotype in a population from Shanghai region, and to explore the molecular basis of Lu(a-b-) by detecting the Lu and Lu relative mediator gene EKLF/KLF1.

Methods: Donors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu(b-) were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu(a-b-) samples were amplified and sequenced.

Results: Ten Lu(a-b-) donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples.

Conclusion: The frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • China / ethnology
  • Humans
  • Kruppel-Like Transcription Factors / genetics*
  • Lutheran Blood-Group System / genetics*
  • Mutation
  • Phenotype

Substances

  • Kruppel-Like Transcription Factors
  • Lutheran Blood-Group System
  • erythroid Kruppel-like factor