DYSKERATOSIS-CONGENITA - 3 ADDITIONAL FAMILIES SHOW LINKAGE TO A LOCUS IN XQ28

Authors
ARNGRIMSSON R DOKAL I LUZZATTO L CONNOR JM
Citation
R. Arngrimsson et al., DYSKERATOSIS-CONGENITA - 3 ADDITIONAL FAMILIES SHOW LINKAGE TO A LOCUS IN XQ28, Journal of Medical Genetics, 30(7), 1993, pp. 618-619
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
30
Issue
7
Year of publication
1993
Pages
618 - 619
Database
ISI
SICI code
0022-2593(1993)30:7<618:D-3AFS>2.0.ZU;2-H
Abstract
Dyskeratosis congenita (DC) is a rare inherited disorder with most fam ilies 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 tha t the X linked DC gene is located at Xq28 and brings the reported maxi mum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.