Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
basic_science · Level V
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- Record sourced from PubMed, PMID 9042917.
- Also identified by PMC identifier 1712491.
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Abstract
In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.
Medical subject headings
- Bone Marrow Diseases
- Dosage Compensation, Genetic
- Skin Diseases