title: Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
abstract: Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
authors.forename: R
authors.initials: R
authors.lastname: Arngrimsson
authors.forename: I
authors.initials: I
authors.lastname: Dokal
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000328:Adult; D001855:Bone Marrow Diseases / Q000235:genetics; D002648:Child; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D007767:Lacrimal Duct Obstruction / Q000235:genetics; D007971:Leukoplakia / Q000235:genetics*; D008126:Lod Score; D008297:Male; D009264:Nails, Malformed; D010198:Pancytopenia / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D013577:Syndrome; D014960:X Chromosome