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JAK2基因座的体细胞遗传学和生殖系遗传学。

Somatic and germline genetics at the JAK2 locus.

作者信息

Campbell Peter J

机构信息

Wellcome Trust Sanger Institute, Hinxton, UK.

出版信息

Nat Genet. 2009 Apr;41(4):385-6. doi: 10.1038/ng0409-385.

DOI:10.1038/ng0409-385
PMID:19338077
Abstract

Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. A new study shows that these mutations are preferentially found within a particular inherited JAK2 haplotype, implying the existence of a strong, but uncharacterized, interaction between somatic and germline genetics at this locus.

摘要

骨髓增殖性肿瘤是一类血液系统恶性肿瘤，常与JAK2基因的体细胞获得性突变相关。一项新研究表明，这些突变优先出现在特定的遗传性JAK2单倍型中，这意味着在该位点的体细胞遗传学和种系遗传学之间存在一种强烈但尚未明确的相互作用。

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2
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Nat Genet. 2009 Apr;41(4):455-9. doi: 10.1038/ng.342. Epub 2009 Mar 15.
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The Contribution of 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.46/1 单体型在骨髓增殖性肿瘤易感性中的作用。
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