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对DO等位基因的分子研究表明,在巴西,JO比HY更为普遍,而在纽约,HY更为普遍。

Molecular studies of DO alleles reveal that JO is more prevalent than HY in Brazil, whereas HY is more prevalent in New York.

作者信息

Castilho L, Baleotti W, Tossas E, Hue-Roye K, Ribeiro K R, Lomas-Francis C, Charles-Pierre D, Reid M E

机构信息

Hemocentro, Universidade de Campinas, Campinas, São Paulo, Brazil.

出版信息

Immunohematology. 2008;24(4):135-7.

PMID:19856715
Abstract

Because of the scarcity of anti-Hy and anti-Jo(a), hemagglutination typing for the Dombrock blood group system antigens, Hy and Jo(a), is not feasible. The molecular bases associated with these antigens have been determined, making it possible to distinguish HY and JO from wild-type DO. This provides a tool to predict the probable phenotype of patients and to screen for antigen-negative donors. PCR-RFLP assays and a microchip assay were used to determine the frequency of HY and JO alleles in donors from Brazil and New York. DNA from random Brazilian donors, 288 by PCR-RFLP and 599 by the bead array method (BeadChip, BioArray Solutions, Warren, NJ), was tested to determine 323G/T (HY+/HY-) and 350C>T (JO+/JO-) single-nucleotide polymorphisms. In New York, 27,226 donors who self-identified as being African American were tested by hemagglutination with anti-Gy(a). Nonreactive and weakly reactive samples were tested by PCR-RFLP for the same alleles as listed above. In Brazil, 30 (3.4%) of the samples were JO/DO and 13 (1.4%) were HY/DO. In New York, of the samples that had HY or JO alleles, 14 were homozygous HY/HY 132 were heterozygous HY/DO, 13 were heterozygous HY/JO, 14 were heterozygous JO/DO, and 3 were homozygous JO/JO. These results show that in donors from Brazil, JO (30 alleles) is more than twice as prevalent as HY (13 alleles), whereas in donors from New York, HY (173 alleles) was more than five times more common than JO (33 alleles).

摘要

由于抗-Hy和抗-Jo(a)血清稀缺,对唐德洛克血型系统抗原Hy和Jo(a)进行血凝分型并不可行。与这些抗原相关的分子基础已被确定,从而能够将HY和JO与野生型DO区分开来。这为预测患者可能的表型以及筛选抗原阴性供体提供了一种工具。采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)和微芯片分析来确定巴西和纽约供体中HY和JO等位基因的频率。对来自巴西的随机供体的DNA进行检测,其中288份采用PCR-RFLP法,599份采用微珠阵列法(BeadChip,BioArray Solutions公司,新泽西州沃伦),以确定323G/T(HY+/HY-)和350C>T(JO+/JO-)单核苷酸多态性。在纽约,对27226名自我认定为非裔美国人的供体进行了抗-Gy(a)血凝检测。对无反应和弱反应样本采用PCR-RFLP法检测上述相同等位基因。在巴西,30份样本(3.4%)为JO/DO,13份样本(1.4%)为HY/DO。在纽约,具有HY或JO等位基因的样本中,14份为纯合子HY/HY,132份为杂合子HY/DO,13份为杂合子HY/JO,14份为杂合子JO/DO,3份为纯合子JO/JO。这些结果表明,在巴西供体中,JO(30个等位基因)的流行率是HY(13个等位基因)的两倍多,而在纽约供体中,HY(173个等位基因)比JO(33个等位基因)常见五倍多。

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Immunohematology. 2008;24(4):135-7.
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引用本文的文献

1
Blood group polymorphisms in Brazil.巴西的血型多态性。
Rev Bras Hematol Hemoter. 2016 Jul-Sep;38(3):182-3. doi: 10.1016/j.bjhh.2016.04.008. Epub 2016 May 16.
2
Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele.对巴西献血者进行的多姆布罗克基因分型显示,HY等位基因在不同地区的频率有所不同。
Rev Bras Hematol Hemoter. 2013;35(6):400-3. doi: 10.5581/1516-8484.20130128.
3
Genetic diversity of the human blood group systems.人类血型系统的遗传多样性。
Rev Bras Hematol Hemoter. 2013;35(6):383-4. doi: 10.5581/1516-8484.20130132.
4
A PCR-based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO* A-WL.基于 PCR 的巴西献血者 Dombrock 筛查策略揭示了一种新的等位基因:DO*A-WL。
J Clin Lab Anal. 2011;25(2):79-82. doi: 10.1002/jcla.20436.