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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第802位核苷酸以及德国人群中ABO基因型的分布。

Genotyping of the ABO blood group system: analysis of nucleotide position 802 by PCR-RFLP and the distribution of ABO genotypes in a German population.

作者信息

Nishimukai H, Fukumori Y, Okiura T, Yuasa I, Shinomiya T, Ohnoki S, Shibata H, Vogt U

机构信息

Department of Legal Medicine, School of Medicine, Ehime University, Japan.

出版信息

Int J Legal Med. 1996;109(2):90-3. doi: 10.1007/BF01355523.

DOI:10.1007/BF01355523
PMID:8912054
Abstract

Genotypes of the ABO blood group system were studied by PCR-RFLP analysis of the eight polymorphic nucleotide positions (nps) 261, 467, 526, 646, 703, 796, 802 and 803 of the cDNA from A transferase. In 169 unrelated German individuals, 17 genotypes were found and the calculated allele frequencies of A(Pro), A(Leu), B, O(T), O(A) and O2 were 0.2130, 0.0770, 0.0473, 0.4260, 0.2160 and 0.0207, respectively. These frequency data may provide useful additional information for disputed paternity and stain testing. A variant O allele, O2, was fout at a polymorphic frequency. As the nucleotide (np 261) of the O2 allele is the same as that of A and B alleles, the analysis of at least three nucleotide positions, i.e. nps 261, 526 and 802, is necessary to avoid mistyping of the ABO genotype.

摘要

通过对A转移酶cDNA的8个多态性核苷酸位点(nps)261、467、526、646、703、796、802和803进行PCR-RFLP分析,研究了ABO血型系统的基因型。在169名无亲缘关系的德国个体中,发现了17种基因型,计算出的A(Pro)、A(Leu)、B、O(T)、O(A)和O2等位基因频率分别为0.2130、0.0770、0.0473、0.4260、0.2160和0.0207。这些频率数据可能为有争议的亲子鉴定和污渍检测提供有用的额外信息。发现了一个变异的O等位基因O2,其频率具有多态性。由于O2等位基因的核苷酸(np 261)与A和B等位基因的相同,因此至少分析三个核苷酸位点,即nps 261、526和802,对于避免ABO基因型的误判是必要的。

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Molecular genetic analysis of the ABO blood group system: 1. Weak subgroups: A3 and B3 alleles.ABO血型系统的分子遗传学分析:1. 弱亚型:A3和B3等位基因。
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Genotyping of ABO blood groups by PCR and RFLP analysis of 5 nucleotide positions.通过对5个核苷酸位置进行聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析对ABO血型进行基因分型。
Int J Legal Med. 1995;107(4):179-82. doi: 10.1007/BF01428401.
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The polymorphism of the plasma inter-alpha-trypsin inhibitor (ITI) and its relationship to the heavy chain H1 subunit gene (ITIH1) at 3p211-212.
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