整个HLA - A基因的缺失伴随着一个逆转录转座子的插入。
Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon.
作者信息
Takasu M, Hayashi R, Maruya E, Ota M, Imura K, Kougo K, Kobayashi C, Saji H, Ishikawa Y, Asai T, Tokunaga K
机构信息
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
出版信息
Tissue Antigens. 2007 Aug;70(2):144-50. doi: 10.1111/j.1399-0039.2007.00870.x.
Unusual HLA-A'null' alleles because of an entire gene deletion were found in three apparently unrelated Japanese families with leukemia patients. Inclusion of the entire HLA-A gene in the deletion was confirmed by polymerase chain reaction direct sequencing of the surrounding regions of HLA-A. Further localization of the breakpoints of the HLA-A deletion at the centromeric and telomeric sides was performed, and these families were shown to possess the identical deletion. We then determined the genomic sequence of the HLA-A-deleted haplotype. Surprisingly, the haplotype turned out to carry an insertion of an SVA (SINE-VNTR-Alu) retrotransposon of 2 kb as well as the 14 kb deletion that included the entire HLA-A gene.
在三个明显无亲缘关系的白血病患者日本家庭中发现了因整个基因缺失导致的异常HLA - A“无效”等位基因。通过对HLA - A周围区域进行聚合酶链反应直接测序，证实缺失中包含整个HLA - A基因。进一步对HLA - A缺失在着丝粒和端粒侧的断点进行定位，结果显示这些家庭具有相同的缺失。然后我们确定了HLA - A缺失单倍型的基因组序列。令人惊讶的是，该单倍型不仅携带了一个包含整个HLA - A基因的14 kb缺失，还插入了一个2 kb的SVA（短散在元件 - 可变数目串联重复序列 - 阿尔u元件）逆转录转座子。
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