Fine mapping of the dyskeratosis congenita locus in Xq28

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 993-995

  Knight, S W ^a   Vulliamy, T ^a   Forni, G L ^b   Oscier, D ^c   Mason, P J ^a   Dokal, I ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b GALLIERA HOSPITAL   (Italy)

^c ROYAL BOURNEMOUTH HOSPITAL   (United Kingdom)

Author keywords

Dyskeratosis congenita; X linked; Xq28

Indexed keywords

ARTICLE; BONE MARROW DEPRESSION; CHROMOSOME XQ; DYSKERATOSIS CONGENITA; GENE LOCUS; GENETIC POLYMORPHISM; HUMAN; LEUKOPLAKIA; MALE; MORTALITY; MUCOSA; NAIL DYSTROPHY; PRIORITY JOURNAL; RETICULUM CELL; SKIN PIGMENTATION; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0030476941     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.993     Document Type: Article

References (12)

1. Drachtman RA, Alter BP. Dyskeratosis congenita - clinical and generic-heterogeneity - report of a new case and review of the literature. Am J Pediatr Hematol Oncol 1992; 14:297-304.
2. Dokal I, Luzzatto L. Dyskeratosis congenita is a chromosomal instability disorder. Leuk Lymphoma 1994;15:1-7.
3. Dokal I. Dyskeratosis congenita - an inherited bone-marrow failure syndrome. Br J Haematol 1996;92:775-9.
4. Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 1986;72:348-51.
5. Arngrimsson R, Dokal I, Luzzatto L, Connor JM. Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. J Med Genet 1993;30:618-19.
6. Dokal I, Bungey J, Williamson P, Oscier D, Hows J, Luzzatto L. Dyskeratosis-congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 1992;80:3090-6.
7. Sykes BC. DNA in heritable disease. Lancet 1983;ii:787-9.
8. Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A. Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113). Hum Mol Genet 1993;2:612.
9. Dahl N, Samson F, Thomas NS, et al. X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305 closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J Med Genet 1994;31:922-4.
10. Hicks AA, Johnson KJ, Barnard FA, Darlison MG. Dinucleotide repeat polymorphism in the human X-linked GABA A receptor alpha-3 subunit gene. Nucleic Acids Res 1991;19:4016.
11. Freije D, Helms C, Watson MS, Doniskeller H. Identification of a 2nd pseudoautosomal region near the Xq and Yq telomeres. Science 1992;258:1784-7.
12. Richards B, Heilig R, Oberle I, Storjoham L, Horn GT. Rapid PCR analysis of the st14 (DXS52) VNTR. Nucleic Acids Res 1991;19:1944.