Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families

Eur J Hum Genet. 1999 May-Jun;7(4):499-504. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Neoplasms / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Female
  • Founder Effect*
  • France
  • Genetic Heterogeneity*
  • Genetic Linkage*
  • Hemangioma, Cavernous / genetics*
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Pedigree
  • White People / genetics