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Two novel frame shift, recurrent and de novo mutations in the ITGB2 (CD18) gene causing leukocyte adhesion de?ciency in a highly inbred North African population

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Author(s): Fathallah D. M. | Jamal T. | Barbouche M. R. | Bejaoui M. | Hariz M. Ben | Dellagi K.

Journal: Journal of Biomedicine and Biotechnology
ISSN 1110-7243

Volume: 1;
Issue: 3;
Start page: 114;
Date: 2001;
Original page

ABSTRACT
We have identi?ed four different mutations causing leukocyte adhesion de?ciency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also characterized a novel Xba1 polymorphic site located at the 5' end of the ITGB2 locus. Family studies showed that the 1497delG mutation segregated with this marker and the intragenic AvaII polymorphic marker, suggesting the presence of a founder effect. The observation of a heterogeneous spectrum including de novo and recurrent mutations causing LAD in a highly inbred population is rather unexpected. In view of the literature published on the molecular genetics of LAD and considering the ethnic origin of the patients studied, our ?ndings con?rm the heterogeneity of the mutations causing LAD and point out potential mutational hot spots in the ITGB2 gene.
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