X chromosome-inactivation patterns of 1,005 phenotypically unaffected females
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females
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DOI：
10.1086/507565
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发表时间：
2006-09-01
影响因子：
9.8
通讯作者：
Willard, Huntington F.
中科院分区：
文献类型：
--
作者：
Amos-Landgraf, James M.;Cottle, Amy;Willard, Huntington F.
人们普遍认为，X染色体失活在女性早期发育中是随机的，并导致细胞的马赛克分布，大约一半来自父亲的X染色体失活，一半来自母亲的X染色体失活。明显偏离这种随机模式是多种临床状态的标志，包括携带严重的x连锁疾病或x染色体细胞遗传学异常。为了评估X失活扭曲模式的重要性，我们在11,000个表型未受影响的雌性种群中检测了X失活模式。数据表明，只有非常小比例的未受影响的女性表现出明显的倾斜失活，特别是在新生儿期。通过与该数据集的比较，现在可以对特定个体的偏失活程度进行量化并评估其潜在的临床意义。
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome inactive and half with the maternally derived X chromosome inactive. Significant departures from such a random pattern are hallmarks of a variety of clinical states, including being carriers for severe X-linked diseases or X-chromosome cytogenetic abnormalities. To evaluate the significance of skewed patterns of X inactivation, we examined patterns of X inactivation in a population of 11,000 phenotypically unaffected females. The data demonstrate that only a very small proportion of unaffected females show significantly skewed inactivation, especially during the neonatal period. By comparison with this data set, the degree of skewed inactivation in a given individual can now be quantified and evaluated for its potential clinical significance.