Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 238-241, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-254474
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
China
/
Ethnology
/
Kruppel-Like Transcription Factors
/
Genetics
/
Lutheran Blood-Group System
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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