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两个欧洲人群中ABO血型系统的罕见等位基因。

Rare alleles of the ABO blood group system in two European populations.

作者信息

Nishimukai Hiroaki, Fukumori Yasuo, Tsujimura Ryusuke, Okiura Tatsuyuki, Tanabe Ryosuke, Orimoto Chitoshi, Ueda Norifumi

机构信息

Department of Legal Medicine, Ehime University Graduate School of Medicine, Ehime 791-0295, Japan.

出版信息

Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S479-81. doi: 10.1016/j.legalmed.2009.01.058. Epub 2009 Feb 28.

Abstract

We performed genotyping of the ABO system in Italian and Israeli population samples. The nucleotides at 11 positions, nts 261, 297, 467, 526, 646, 681, 703, 796, 802, 803 and 1060, were analyzed by PCR-RFLP, PCR-SSP and PCR direct sequencing methods. We found three rare ABO alleles besides the common alleles ()A1(Pro) (=()A101), ()A2(Leu) (=()A201), ()B (=()B101), ()O(T) (=()O01), ()O(A) (=()O02) and ()O2 (=()O03), but did not detect ( )A1(Leu) (=( )A102) which is a common allele in Asians. The rare alleles were tentatively named ()Ov1, ()Ov2, and ()Bv. As ( )Bv has been found in two Japanese individuals and ()O2 is not a rare ABO allele in Europeans, not only ()O2 but also the ()Ov1 and ()Ov2 alleles may be characteristic of European populations.

摘要

我们对意大利和以色列人群样本进行了ABO血型系统的基因分型。通过聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)、聚合酶链反应-序列特异性引物分析(PCR-SSP)和聚合酶链反应直接测序法,对第261、297、467、526、646、681、703、796、802、803和1060位的核苷酸进行了分析。除了常见等位基因()A1(Pro)(=()A101)、()A2(Leu)(=()A201)、()B(=()B101)、()O(T)(=()O01)、()O(A)(=()O02)和()O2(=()O03)外,我们还发现了三个罕见的ABO等位基因,但未检测到在亚洲人中常见的等位基因()A1(Leu)(=()A102)。这些罕见等位基因被暂定为()Ov1、()Ov2和()Bv。由于在两名日本个体中发现了()Bv,且()O2在欧洲人中并非罕见的ABO等位基因,因此不仅()O2,()Ov1和()Ov2等位基因也可能是欧洲人群的特征。

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