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


CONCLUSIONS
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.
Shanghai Blood Center, Shanghai 200051, P. R. China. zhuziyan@sbc.org.cn.
Chen
C
Wang
Qin
Q
Li
Zhonghui
Z
Guo
Luyi
L
Ye
Ziyan
Z
Zhu
D002681:China / Q000208:ethnology; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008188:Lutheran Blood-Group System / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D051741:Kruppel-Like Transcription Factors; D008188:Lutheran Blood-Group System; C080774:erythroid Kruppel-like factor