PT  - JOURNAL ARTICLE
AU  - Knight, S W
AU  - Vulliamy, T
AU  - Forni, G L
AU  - Oscier, D
AU  - Mason, P J
AU  - Dokal, I
TI  - Fine mapping of the dyskeratosis congenita locus in Xq28.
AID  - 10.1136/jmg.33.12.993
DP  - 1996 Dec 01
TA  - Journal of Medical Genetics
PG  - 993--995
VI  - 33
IP  - 12
4099  - http://jmg.bmj.com/content/33/12/993.short
4100  - http://jmg.bmj.com/content/33/12/993.full
SO  - J Med Genet1996 Dec 01; 33
AB  - 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.