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Identification of an HLA-A11 serological variant and its characterization by sequencing based typing.

机译:HLA-A11血清学变异体的鉴定及其通过基于测序的分型进行表征。

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摘要

We have identified an HLA-A11 variant allele, A*1105, segregating in a Caucasoid family. The variant antigen expressed by this allele failed to cross-react with most Caucasoid anti-HLA-A11 antisera tested. Sequencing based typing has been used to characterize this new allele and this showed that it has a novel mutation at a polymorphic position (502) in exon 3. In comparison with A*1101, the mutation (A-->G) results in an amino acid change from positively-charged lysine to negative glutamate and this may explain the altered HLA-A11 serological profile exhibited by this antigen. The new allele was found in a patient with acute lymphoid leukaemia (ALL), her father and two siblings.
机译:我们已经鉴定出在高加索家族中分离的HLA-A11变异等位基因A * 1105。该等位基因表达的变异抗原无法与大多数高加索抗HLA-A11抗血清交叉反应。基于序列的分型已被用来表征这个新的等位基因,这表明它在外显子3的多态性位置(502)有一个新的突变。与A * 1101相比,突变(A-> G)导致氨基酸从带正电的赖氨酸变为负的谷氨酸,这可能解释了这种抗原表现出的HLA-A11血清学特征改变。在一名患有急性淋巴白血病(ALL)的患者,她的父亲和两个兄弟姐妹中发现了新的等位基因。

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