Dyskeratosis congenita is an X linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive
family with the condition using the Xg blood group and 17 cloned X chromosomal DNA sequences which recognise restriction fragment length polymorphisms (RFLPs). No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (Stl4-1) (Zmax=3.33 at 8max=0 with 95% confidence limits of 0 to 14 cM). Similarly no recombination was observed for the disease locus and F8 (Zmax=1-23 at 8max=0) nor for DXSJ5 (DX13) (Zmax=1-62 at 8max=0), but both of these markers were
only informative in part of the family whereas DXS52 was fully informative. DXS52, DXSJ5, and F8 are known to be tightly linked and have previously been assigned to Xq28.
Thus the gene for dyskeratosis congenita can be assigned to Xq28. These DNA sequence polymorphisms will be of clinical value for carrier detection and prenatal diagnosis.