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ABO 血型等位基因在汉族人群中的分布及三种新等位基因的鉴定。

Distribution of ABO blood group allele and identification of three novel alleles in the Chinese Han population.

机构信息

Blood Center of Zhejiang Province, Hangzhou, Zhejiang, People's Republic of China.

出版信息

Vox Sang. 2010 May;98(4):554-9. doi: 10.1111/j.1423-0410.2009.01291.x. Epub 2009 Dec 8.

DOI:10.1111/j.1423-0410.2009.01291.x
PMID:20003128
Abstract

BACKGROUND

The ABO blood group system is clinically important in blood transfusion. The molecular characterization of ABO blood group has clinical and anthropological importance. Here, we determined the ABO alleles distribution and identified three novel alleles in the Chinese Han population.

STUDY DESIGN AND METHODS

Four hundred and seventeen Chinese Han individuals were determined by standard serologic techniques for the ABO blood group phenotypes. The ABO genotypes and alleles were analysed by polymerase chain reaction sequence-based typing (PCR-SBT) for sequencing exon 6 to 7 of the ABO gene. The polymorphisms of intron 5 and 6 of the ABO gene were also analysed by PCR-SBT. The two haplotypes including new alleles were separated by a Dynabeads M-270 Streptavidin protocol.

RESULTS

All ABO genotypes of the samples were consistent with the phenotypes. Fourteen alleles were identified based on the nucleotide sequences of exon 6 and 7, with five common alleles (A101, A102, B101, O01 and O02), six known rare alleles (A205, B110, O04, O05, O07 and O50) and three novel alleles (B112, CisAB06 and 061). The three new alleles appeared with the frequencies of 0.12%, 0.12% and 0.36%, respectively.

CONCLUSION

The detailed frequencies distribution of ABO alleles was studied in the Chinese Han population. We identified 14 alleles, including 3 novel alleles.

摘要

背景

ABO 血型系统在输血中具有重要的临床意义。ABO 血型的分子特征具有临床和人类学意义。在这里,我们确定了中国汉族人群的 ABO 等位基因分布,并鉴定了三个新的等位基因。

研究设计和方法

通过标准血清学技术确定了 417 名中国汉族个体的 ABO 血型表型。通过聚合酶链反应序列-基于测序(PCR-SBT)分析 ABO 基因外显子 6 至 7 的 ABO 基因型和等位基因,用于测序。还通过 PCR-SBT 分析了 ABO 基因内含子 5 和 6 的多态性。通过 Dynabeads M-270 链霉亲和素方案分离包含新等位基因的两个单倍型。

结果

所有样本的 ABO 基因型均与表型一致。根据外显子 6 和 7 的核苷酸序列,确定了 14 个等位基因,其中包括 5 个常见等位基因(A101、A102、B101、O01 和 O02)、6 个已知稀有等位基因(A205、B110、O04、O05、O07 和 O50)和 3 个新等位基因(B112、CisAB06 和 061)。这三个新等位基因的出现频率分别为 0.12%、0.12%和 0.36%。

结论

研究了中国汉族人群 ABO 等位基因的详细频率分布。我们鉴定了 14 个等位基因,包括 3 个新等位基因。

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