Abstract:

Objective　 To reveal the molecule and genetic background of EKLF/KLF1 gene in Lu(a-b-) phenotype among Chinese Zhuang population. Methods　 A total of 22 probands of Lu (b-) phenotype were detected among 4 527 Chinese Zhuang population donors. The Lu (a-b-) individuals of their family members were determined by serologic methods. In addition, 3 exons of EKLF/KLF1 gene were amplified and sequenced. The genetic background was analyzed by sequencing. Results 　Among the 22 probands, 57 cases with Lu (a-b-) phenotype were determined. A total of 51 individuals from 19 pedigrees showed EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation. The other 3 pedigrees′ Lu (a-b-) phenotype had EKLF/KLF1 (895C>G) heterozygous mutation. Conclusions 　The Lu (a-b-) in Chinese Zhuang population might be caused by specific heterozygous mutations in EKLF/KLF1 gene, especially the EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation.

Key words: Rare blood type, Lutheran blood type, EKLF/KLF1 gene