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外显子3的缺失在一名马提尼克岛女性中产生了一个新的HLA - A*01无效等位基因(A*0115N)。

A deletion in exon 3 results in a new HLA-A*01 null allele (A*0115N) in a Martinican woman.

作者信息

Béra O, Dubois V, Assaqa A, Belon P, Favre-Victoire I, Gebuhrer L

机构信息

Histocompatibility Laboratory, CHU de Fort-de-France, Martinique (FWI).

出版信息

Tissue Antigens. 2006 Jan;67(1):61-3. doi: 10.1111/j.1399-0039.2005.00528.x.

Abstract

We report the identification of a new HLA-A null allele, HLA-A0115N. This null allele has been identified within the A01 group by a combination of serological and molecular typing [Polymerase chain reaction (PCR) sequence-specific primers, PCR sequence-specific oligoprobes and sequence-based typing (SBT)] in a potential intrafamilial bone marrow donor from Martinique (French West Indies). To characterize this A01 null allele, we performed DNA typing by PCR-SBT on genomic DNA from the beginning of exon 2 (position 84) through the end of the exon 4 (position 895) and revealed a nucleotide deletion at the end of the exon 3. This sole difference between the new allele and the HLA-A0101 generates a premature stop codon (TGA) in the beginning of exon 4. This deletion most likely explains the lack of cell surface expression of the encoded protein despite the presence of A01 allele. The absence of correct expression of the antigen on the cell surface was confirmed by one-dimensional isoelectric focusing (1D-IEF). To date, this is the fourth null allele described within the A01 group.

摘要

我们报告鉴定出一种新的HLA - A无效等位基因,即HLA - A0115N。该无效等位基因是在来自马提尼克岛(法属西印度群岛)的一名潜在家族内骨髓供体中,通过血清学和分子分型相结合的方法(聚合酶链反应(PCR)序列特异性引物、PCR序列特异性寡核苷酸探针和基于序列的分型(SBT))在A01组内鉴定出来的。为了表征这种A01无效等位基因,我们对从外显子2起始(第84位)到外显子4末尾(第895位)的基因组DNA进行了PCR - SBT基因分型,结果显示在外显子3末尾存在一个核苷酸缺失。新等位基因与HLA - A0101之间的这一唯一差异在第4外显子起始处产生了一个提前终止密码子(TGA)。尽管存在A01等位基因,但这种缺失很可能解释了编码蛋白在细胞表面缺乏表达的原因。通过一维等电聚焦(1D - IEF)证实了抗原在细胞表面缺乏正确表达。迄今为止,这是在A01组内描述的第四个无效等位基因。

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