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台湾人群中一种新型O等位基因的鉴定。

Identification of a novel O allele in the Taiwanese population.

作者信息

Chen Ding-Ping, Tseng Ching-Ping, Wang Wei-Ting, Sun Chien-Feng

机构信息

Department of Clinical Pathology, Linkou Medical Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

出版信息

Ann Clin Lab Sci. 2004 Winter;34(1):63-6.

Abstract

The ABO system is one of the major blood groups that have significant impact on blood transfusion and paternity testing. We have found a new ABO allele by analyses of the ABO genotype of the Taiwanese population. Exons 6 and 7 of the ABO gene were amplified by the polymerase chain reaction and analyzed by direct sequencing. The results indicated that the ABO gene in the Taiwanese population consists mainly of the A1, A1v, B, O1, and O1v alleles. In addition, a novel O allele designated as OTaiwan was identified that has G --> T substitution at the nucleotide 801 of the O1 allele. The OTaiwan allele is inheritable, since it is also present in an offspring of the OTaiwan-carrying individual. The information presented herein is valuable for population research and for analyses of evolutionary lineage.

摘要

ABO血型系统是对输血和亲子鉴定有重大影响的主要血型系统之一。我们通过对台湾人群ABO基因型的分析发现了一个新的ABO等位基因。采用聚合酶链反应扩增ABO基因的第6和第7外显子,并通过直接测序进行分析。结果表明,台湾人群的ABO基因主要由A1、A1v、B、O1和O1v等位基因组成。此外,还鉴定出一个新的O等位基因,命名为OTaiwan,它在O1等位基因的第801位核苷酸处发生了G→T替换。OTaiwan等位基因是可遗传的,因为它也存在于携带OTaiwan个体的后代中。本文提供的信息对群体研究和进化谱系分析具有重要价值。

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