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巴西家族中 FCGR3B*03 等位基因遗传模式及基因 FCGR3B 的一些新变异体。

FCGR3B*03 allele inheritance pattern in Brazilian families and some new variants of gene FCGR3B.

机构信息

Disciplina de Hematologia e Hemoterapia, Universidade Federal de São Paulo, São Paulo, Brasil.

出版信息

Transfusion. 2012 Mar;52(3):629-34. doi: 10.1111/j.1537-2995.2011.03326.x. Epub 2011 Sep 2.

Abstract

BACKGROUND

The FCGR3B gene encoding the FcyRIIIb receptor for immunoglobulin G has three polymorphic forms known as HNA-1a, HNA-1b, and HNA-1c, encoded by the alleles FCGR3B01, FCGR3B02, and FCGR3B03, respectively. It is not clear whether the inheritance of the FCGR3B03 allele, which encodes the HNA-1c, is linked or not to the other two alleles. The objective of this study was to identify the inheritance pattern of the FCGR3B*03 allele in Brazilians.

STUDY DESIGN AND METHODS

Blood samples from nine families with at least one FCGR3B03(+) member, totalizing 47 individuals, were studied. The presence of the FCGR3B01, FCGR3B02, and FCGR3B03 alleles was detected by the polymerase chain reaction with sequence-specific priming method, and all DNA samples were sequenced.

RESULTS

In three of the nine studied families, the FCGR3B03 was passed down with the FCGR3B02, while in one family the FCGR3B03 was inherited in linkage with FCGR3B01. The other families were not informative regarding FCGR3B03 inheritance. Sequencing showed for the first time one single-nucleotide polymorphism at Position 264 resulting from a simple substitution C→T; three other different substitutions at Position 230, T→A, T→G; and the presence of three nucleotides at Position 230 (T, G, and A). The previously reported variants FCGR3B01A227G and FCGR3BG330T were also found.

CONCLUSION

In this Brazilian FCGR3B03(+) group we found that the inheritance of FCGR3B03 took place by a linkage to FCGR3B02 or to FCGR3B01. Linkage of FCGR3B03 to FCGR3B02 was the most common. Additionally, we report SNPs that have not been described, suggesting that they might be more common than previously thought.

摘要

背景

编码 IgG Fc 受体 FcyRIIIb 的 FCGR3B 基因有三种多态形式,分别称为 HNA-1a、HNA-1b 和 HNA-1c,由等位基因 FCGR3B01、FCGR3B02 和 FCGR3B03 编码。目前尚不清楚编码 HNA-1c 的 FCGR3B03 等位基因的遗传是否与其他两个等位基因有关。本研究的目的是确定巴西人 FCGR3B*03 等位基因的遗传模式。

研究设计和方法

研究了 9 个至少有 1 个 FCGR3B03(+)成员的家族的血液样本,共计 47 人。采用聚合酶链反应序列特异性引物法检测 FCGR3B01、FCGR3B02 和 FCGR3B03 等位基因的存在,并对所有 DNA 样本进行测序。

结果

在所研究的 9 个家族中的 3 个家族中,FCGR3B03 与 FCGR3B02 一起遗传,而在 1 个家族中,FCGR3B03 与 FCGR3B01 连锁遗传。其他家族在 FCGR3B03 遗传方面没有信息。测序首次显示第 264 位的一个单核苷酸多态性,由简单的 C→T 取代引起;第 230 位还有 3 个不同的取代,T→A、T→G;以及第 230 位存在 3 个核苷酸(T、G 和 A)。还发现了先前报道的 FCGR3B01A227G 和 FCGR3BG330T 变体。

结论

在这个巴西的 FCGR3B03(+)群体中,我们发现 FCGR3B03 的遗传发生在与 FCGR3B02 或 FCGR3B01 的连锁上。FCGR3B03 与 FCGR3B02 的连锁是最常见的。此外,我们报告了一些尚未描述的 SNP,这表明它们可能比以前认为的更为普遍。

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