Chinese Journal of Medical Genetics 2011;28(1):83-87

doi:10.3760/cma.j.issn.1003-9406.2011.01.019

Cloning and sequence analysis of 5'untranslated region of human ABO gene.

Ying LIU 1 ; Xian-guo XU ; Kai-rong MA ; Xiao-fei LAN ; Xiao-zhen HONG ; Fa-ming ZHU ; Hang-jun LV ; Li-xing YAN

Affiliations

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Country

China

Language

Chinese

Abstract

OBJECTIVETo clone and investigate the polymorphism of the 5'-untranslated region (5'-UTR) of the human ABO gene, in order to provide the basis for exploring the transcriptional regulation of the human ABO histo-blood group genes.

METHODSABO phenotypes of 30 unrelated healthy blood donors were determined by serological technique, their genotypes were analyzed by sequencing the exons 6 and 7 of the ABO gene. Nearly 5 kb of the 5'-UTR of ABO gene was obtained by PCR amplification and sequencing was performed bidirectionally. Haplotypes of samples with heterozygous sites in the 5'-UTR of ABO gene were separated and analyzed after cloning.

RESULTSTwenty polymorphic sites were identified in these samples where ABO genotypes were consistent with serological phenotypes. It included sixteen nucleotide sequence variations, one 8 bp deletion, one 6 bp deletion/insertion, one 36 bp insertion and one 43 bp repeats. Among them, 11 were novel polymorphic sites. Seven different haplotypes of 5'-UTR of ABO gene were defined to the cis/trans linkage of those mutations.

CONCLUSIONThere were polymorphisms in the 5'-UTR of ABO gene and the nucleotide sequences near the proximal promoter were conservative.