A novel HLA-B*420502 allele identified by PCR-SSO/SSP routine typing and confirmed by Sequencing-based typing
A novel HLA-B*420502 allele identified by PCR-SSO/SSP routine typing and confirmed by Sequencing-based typing
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DOI：
10.1111/j.1399-0039.2005.00376.x
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发表时间：
2005-03-01
期刊：
影响因子：
--
通讯作者：
Fischer, GF
中科院分区：
文献类型：
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作者：
Mrazek, F;Fae, I;Fischer, GF
在家庭内部寻找造血干细胞捐献者的过程中，一名白血病患者（高加索人种，捷克血统）及其母亲发现了一种新的人类白细胞抗原 B (HLA-B) 等位基因 B*420502。这种新型等位基因最初是通过使用序列特异性引物和序列特异性寡核苷酸技术以低分辨率进行 HLA 分型来检测的，从而产生了独特的反应模式。通过单倍型特异性提取技术分离 HLA-B 基因座的等位基因。这些等位基因的测序揭示了一个新的等位基因 B*420502，它与 B*420501 相同，只是在第 618 位发生了 T-->G 交换（同义突变）。
A novel human leukocyte antigen-B (HLA-B) allele, B*420502, was identified in a patient with leukemia (Caucasoid, Czech ancestry) and his mother during intrafamily search for the hematopoietic stem cell donor. The novel allele was initially detected by HLA typing at low resolution using both sequence specific primers and sequence specific oligonucleotides techniques that resulted in unique reaction patterns. The alleles of the HLA-B locus were separated by the haplotype-specific extraction technique. Sequencing of those alleles revealed a novel allele, B*420502, that is identical with B*420501 except a T-->G exchange (synonymous mutation) at position 618.