title: Fine mapping of the dyskeratosis congenita locus in Xq28.
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.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
authors.forename: S W
authors.initials: SW
authors.lastname: Knight
authors.forename: T
authors.initials: T
authors.lastname: Vulliamy
authors.forename: G L
authors.initials: GL
authors.lastname: Forni
authors.forename: D
authors.initials: D
authors.lastname: Oscier
authors.forename: P J
authors.initials: PJ
authors.lastname: Mason
authors.forename: I
authors.initials: I
authors.lastname: Dokal
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D007971:Leukoplakia / Q000235:genetics; D008297:Male; D009260:Nail Diseases / Q000235:genetics; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*