ABO血型中的一个新变异O^1等位基因的鉴定

A novel O^1 variant allele at the ABO blood group locus

目的 鉴定中国人群的ABO血型新等位基因。 方法 ABO血清学定型、PCR-SSP基因定型、基因克隆和测序分析。结果 一个血型血清学为A2亚型、PCR-SSP基因定型为A201的健康捐血者,其O1基因单倍体的2个碱基发生了缺失突变,即第6外显子区域中261位G缺失和第7外显子区域中496位A缺失。该等位基因与ABO*0101基因序列的差异在于496位A缺失。 结论该等位基因是一个与O1基因相关的新变异等位基因,GenBank的注册号为AY374123。

Objective To identify novel ABO allele in Chinese population. Methods The ABO blood group was tested by serological method, and then genotyped by sequence-specific primer (PCR-SSP) , gene cloning and sequence analysis. Results A healthy blood dornor who was diagnosed as having A2 subgroup and A2O1genotype was subjected to ABO gene cloning and sequence analysis. The haplotype-specific sequence analysis indicate that two single-base deletions, where G-deletion at nucleotide position 261 and A-deletion at nucleotide position 496 were determined in the O1 allele. The nucleotide sequence of the novelO1 allele were identical to ABO 0101 allele except for A-deletion at nucleotide position 496 in exon7 of ABO locus. Conclusion We defined this 0 allele as a novel O1 variant allele, and its registered number by GenBank is AY374123.