Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region.
- VernacularTitle:上海地区汉族人群Lutheran缺失表型的筛选及其分子背景研究
- Author:
Chen WANG
1
;
Qin LI
;
Zhonghui GUO
;
Luyi YE
;
Ziyan ZHU
Author Information
- Publication Type:Journal Article
- MeSH: China; ethnology; Humans; Kruppel-Like Transcription Factors; genetics; Lutheran Blood-Group System; genetics; Mutation; Phenotype
- From: Chinese Journal of Medical Genetics 2014;31(2):238-241
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSDonors 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.
RESULTSTen 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.
CONCLUSIONThe 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.
