Fine mapping of the dyskeratosis congenita locus in Xq28.
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- Record sourced from PubMed, PMID 9004129.
- Also identified by PMC identifier 1050808.
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Abstract
Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We have now extended our earlier studies by investigating five families with additional Xq28 polymorphic markers; analysis of recombination events in these families has located the DC1 locus between GABRA3 and DXS1108, an interval of approximately 4 Mb.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Mapping
- Genetic Linkage
- Hyperpigmentation
- X Chromosome