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Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.

✍ Scribed by May, Melanie; Huston, Sara; Wilroy, R. Sid; Schwartz, Charles


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
486 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis


The Opitz GBBB syndrome (OS) is characterized in part by widely spaced inner ocular canthi and hypospadias. Recently, linkage analysis showed that the gene for the X-linked form to be located in an 18 cM region spanning Xp22. We have now conducted linkage analysis in a family previously published as having the BBB syndrome and found tight linkage to DXS7104 (Z = 3.3, theta = 0.0). Our data narrows the candidate region to 4 cM and should facilitate the identification and characterization of one of the genes involved in midline development.


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