Laberge S, Labauge P, Maréchal E, Maciazek J, Tournier-Lasserve E
INSERM U25, Faculté de Médecine Necker, Paris, France.
Eur J Hum Genet. 1999 May-Jun;7(4):499-504. doi: 10.1038/sj.ejhg.5200324.
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.
脑海绵状血管瘤畸形（CCM）可作为常染色体显性疾病遗传。CCM1基因定位于7q21 - q22，尚未明确，在所有西班牙裔美洲CCM家族中显示与该病相关，且存在强烈的奠基者效应。在两个非西班牙裔美国家族中确定了遗传异质性。我们使用位于CCM1区间内的8个微卫星标记，对36个法国家族进行了遗传连锁分析。混合分析表明，这些家族中有65%与CCM1基因座连锁。对与CCM1连锁的家族进行单倍型分析，未发现任何强烈奠基者效应的证据。
