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台湾地区A2B的分子基础。

Molecular basis of the A2B in Taiwan.

作者信息

Chang Chao-Sung, Lin Kuan-Tsao, Chang Jan-Gowth, Lin Chin-Wein, Hsieh Li-Ling, Yeh Chi-Jung, Liu Ta-Chih

机构信息

Division of Hemato-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, No. 100, Shih-Chuan 1st Rd, Kaohsiung, Taiwan, ROC.

Kaohsiung Blood Center, Taiwan Blood Services Foundation, Kaohsiung, Taiwan, ROC.

出版信息

Int J Hematol. 2008 Sep;88(2):127-133. doi: 10.1007/s12185-008-0136-x. Epub 2008 Jul 24.

DOI:10.1007/s12185-008-0136-x
PMID:18651204
Abstract

Molecular genotyping of the ABO alleles has been widely used in ABO subgroups analysis and has been able to solve the rare ABO blood grouping discrepancies. The genotypes of sixty-one A2B phenotype donors recruited from the middle and south of Taiwan were analyzed by means of molecular methods. The A2B phenotype was initially identified by serological test. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to screen the ABO alleles at nucleotides (nt) 261 and 703 based on the nt differences found in the ABO alleles. The subgroups of the A2 allele were determined by the PCR-RFLP and direct sequencing methods. The discrepancies between the phenotype and genotype of the A2B were then studied by subcloning and nucleotide sequence analysis. Our results show that 55 of the 61 A2B donors (90%) are A205/B allele and two are A201/B allele. Four cases were heterozygotes of the cis-AB/O or B alleles. Two were cis-AB04/O allele, one was cis-AB01/O allele and the other was cis-AB02/B allele. In conclusion, most A2B genotypes belong to the A205/B allele in Taiwan. In this study, we report for the first time the presence of the A205, A201, and cis-AB02 alleles in Taiwan.

摘要

ABO等位基因的分子基因分型已广泛应用于ABO亚群分析,并能够解决罕见的ABO血型鉴定差异问题。采用分子方法对从台湾中南部招募的61例A2B血型供者的基因型进行了分析。A2B血型最初通过血清学检测确定。基于ABO等位基因中发现的核苷酸差异,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法筛选核苷酸(nt)261和703处的ABO等位基因。通过PCR-RFLP和直接测序方法确定A2等位基因的亚群。然后通过亚克隆和核苷酸序列分析研究A2B血型表型与基因型之间的差异。我们的结果显示,61例A2B供者中有55例(90%)为A205/B等位基因,2例为A201/B等位基因。4例为顺式AB/O或B等位基因的杂合子。2例为顺式AB04/O等位基因,1例为顺式AB01/O等位基因,另1例为顺式AB02/B等位基因。总之,台湾地区大多数A2B基因型属于A205/B等位基因。在本研究中,我们首次报道了台湾地区存在A205、A201和顺式AB02等位基因。

相似文献

1
Molecular basis of the A2B in Taiwan.台湾地区A2B的分子基础。
Int J Hematol. 2008 Sep;88(2):127-133. doi: 10.1007/s12185-008-0136-x. Epub 2008 Jul 24.
2
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.对具有弱A B表型个体的ABO外显子和内含子分析揭示了一种新的O1v - A2杂合等位基因,该等位基因在A转移酶中导致四个错义突变。
BMC Genet. 2003 Nov 17;4:17. doi: 10.1186/1471-2156-4-17.
3
[Variants 467C > T and 539G > C of the alpha-1,3-N-acetylgalactosaminyltransferase allele responsible for A2 subgroup].[负责A2亚群的α-1,3-N-乙酰半乳糖胺基转移酶等位基因的467C>T和539G>C变异]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Aug;14(4):808-11.
4
The serological and genetic basis of the cis-AB blood group in Korea.韩国顺式AB血型的血清学和遗传学基础。
Vox Sang. 2004 Jul;87(1):41-3. doi: 10.1111/j.1423-0410.2004.00528.x.
5
[Serological characteristic and molecular basis of A2 subgroup in Shanghai population].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):659-62. doi: 10.3760/cma.j.issn.1003-9406.2014.01.027.
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Serological characteristic and molecular basis of A2 subgroup in the Chinese population.中国人群中A2亚群的血清学特征及分子基础。
Transfus Apher Sci. 2013 Feb;48(1):67-74. doi: 10.1016/j.transci.2012.08.002. Epub 2012 Sep 13.
7
Different alleles cause an imbalance in A2 and A2B phenotypes of the ABO blood group.不同的等位基因会导致ABO血型的A2和A2B表型出现失衡。
Vox Sang. 1998;74(4):242-7.
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Novel polymorphisms in exons 6 and 7 of A/B alleles detected by polymerase chain reaction-single strand conformation polymorphism.通过聚合酶链反应-单链构象多态性检测到的A/B等位基因外显子6和7中的新型多态性。
Vox Sang. 2006 Feb;90(2):119-27. doi: 10.1111/j.1423-0410.2005.00729.x.
9
[Molecular study on CisAB and B(A) blood group in Chinese individuals].[中国人群中CisAB和B(A)血型的分子研究]
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10
Suballeles of the ABO blood group system in a Japanese population.
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引用本文的文献

1
The Potential Significance of ABO Genotyping for Donor Selection in Kidney Transplantation.ABO 基因型在肾移植供者选择中的潜在意义。
Front Immunol. 2020 Nov 19;11:608716. doi: 10.3389/fimmu.2020.608716. eCollection 2020.

本文引用的文献

1
ABO blood group in Kuwaitis: detailed allele frequency distribution and identification of novel alleles.科威特人群中的ABO血型:详细的等位基因频率分布及新等位基因的鉴定
Transfusion. 2006 May;46(5):773-9. doi: 10.1111/j.1537-2995.2006.00796.x.
2
Novel polymorphisms in exons 6 and 7 of A/B alleles detected by polymerase chain reaction-single strand conformation polymorphism.通过聚合酶链反应-单链构象多态性检测到的A/B等位基因外显子6和7中的新型多态性。
Vox Sang. 2006 Feb;90(2):119-27. doi: 10.1111/j.1423-0410.2005.00729.x.
3
The genetic and phenotypic basis of blood group A subtypes in Koreans.
韩国人血型A亚型的遗传和表型基础。
Transfus Med. 2005 Aug;15(4):329-34. doi: 10.1111/j.0958-7578.2005.00598.x.
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Identification of a novel A2 allele derived from the A transferase gene through a nucleotide substitution G539C.通过核苷酸替换G539C鉴定出一种源自A转移酶基因的新型A2等位基因。
Vox Sang. 2005 Apr;88(3):196-9. doi: 10.1111/j.1423-0410.2005.00608.x.
5
A novel cis-AB allele derived from a unique 796C>A mutation in exon 7 of ABO gene.一种源自ABO基因第7外显子独特的796C>A突变的新型顺式AB等位基因。
Transfusion. 2005 Jan;45(1):50-5. doi: 10.1111/j.1537-2995.2005.04108.x.
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.对具有弱A B表型个体的ABO外显子和内含子分析揭示了一种新的O1v - A2杂合等位基因,该等位基因在A转移酶中导致四个错义突变。
BMC Genet. 2003 Nov 17;4:17. doi: 10.1186/1471-2156-4-17.
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Molecular genetic analysis for the Ae1 and A3 alleles.Ae1和A3等位基因的分子遗传学分析
Transfusion. 2003 Aug;43(8):1138-44. doi: 10.1046/j.1537-2995.2003.00500.x.
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The nature of diversity and diversification at the ABO locus.ABO基因座的多样性及多样化的本质。
Blood. 2003 Oct 15;102(8):3035-42. doi: 10.1182/blood-2003-03-0955. Epub 2003 Jun 26.
9
JunB gene expression is inactivated by methylation in chronic myeloid leukemia.在慢性髓性白血病中,JunB基因表达因甲基化而失活。
Blood. 2003 Apr 15;101(8):3205-11. doi: 10.1182/blood-2002-05-1598. Epub 2002 Dec 27.
10
Sequence variation at the human ABO locus.人类ABO基因座的序列变异。
Ann Hum Genet. 2002 Jan;66(Pt 1):1-27. doi: 10.1017/S0003480001008995.