正常供者中自发出现的具有 McLeod 样表型的红细胞。
Spontaneously arising red cells with a McLeod-like phenotype in normal donors.
机构信息
Division of Hematology, Department of Medicine, NYU School of Medicine, New York, NY, United States.
出版信息
Mutat Res. 2009 Dec 1;671(1-2):1-5. doi: 10.1016/j.mrfmmm.2009.03.009. Epub 2009 Apr 2.
Abstract
Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 x 10(-6) in neonatal cord blood samples and 39 x 10(-6) in healthy adults (p=0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.
摘要
极少数人类基因可用于鉴定自发失活的体细胞突变。我们推测，由于 XK 基因位于 X 染色体上，因此很容易识别出表现型类似于 McLeod 综合征的自发出现的红细胞，而 McLeod 综合征是由 XK 基因突变引起的。在这里，我们通过流式细胞术检测到，在新生儿脐带血样本中的中位频率为 9 x 10(-6)，在健康成年人中的中位频率为 39 x 10(-6)（p=0.004）。使用这种方法，有可能进一步研究衰老、突变和癌症之间的关系。
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