X chromosome-inactivation patterns of 1,005 phenotypically unaffected females |
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Authors: | Amos-Landgraf James M Cottle Amy Plenge Robert M Friez Mike Schwartz Charles E Longshore John Willard Huntington F |
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Affiliation: | Department of Genetics, Case Western Reserve Univeristy, Cleveland, USA. |
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Abstract: | 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 >1,000 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. |
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