摘要目的 在上海地区汉族人群中筛选Lu(a-b-)表型并统计该表型的频率.通过检测其LU基因及其相关EKLF/KLF1调控基因,揭示其分子机理.方法 应用血清学方法对上海地区无偿献血者的Lub抗原进行筛选.对Lu(b-)个体鉴定其Lua、P1、i抗原.针对筛选出的Lu(a-b-)标本,对其LU基因的15个外显子以及相关的EKLF/KLF1基因3个外显子进行扩增并测序.结果 在上海地区44 331名无偿献血者标本中筛选出10份Lu(a-b-)标本.其LU基因均未发现纯合或杂合型突变,但在相关的EKLF/KLF1基因中发现7种不同的突变.结论 Lu(a-b-)血型在上海地区汉族人群的频率约为0.02％,均为In(Lu)个体,其分子机制可能与EKLF/KLF1基因的杂合突变有关.

abstractsObjective 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.