Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families
- 21 May 1999
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 7 (4) , 499-504
- https://doi.org/10.1038/sj.ejhg.5200324
Abstract
Cerebral cavernous angiomas malformations (CCM) can be inherited as an autosomal dominant condition. CCM1, a yet unidentified gene mapping on 7q21–q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect. Genetic heterogeneity in non Hispano-American families was established in two families. We conducted a genetic linkage analysis on 36 French CCM families using eight microsatellite markers mapping within the CCM1 interval. Admixture analysis showed that 65% of these families were linked to the CCM1 locus. Haplotypes analysis of CCM1-linked families did not show any evidence for a strong founder effect.Keywords
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