[Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region].
2014
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.
Key words:
Rare blood type; Lutheran blood type; LU gene; EKLF/KLF1 gene
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