Fine mapping of the dyskeratosis congenita locus in Xq28.
Open Access
- 1 December 1996
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (12) , 993-995
- https://doi.org/10.1136/jmg.33.12.993
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.Keywords
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