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

被引：18

作者：

Laberge, S

Labauge, P

Maréchal, E

Maciazek, J

Tournier-Lasserve, E

机构：

[1] Fac Med Necker, INSERM, U25, F-75730 Paris 15, France

[2] Hop Lariboisiere, F-75475 Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1999年 / 7卷 / 04期

关键词：

cavernous angiomas; chromosome; 7; founder effect; genetic heterogeneity;

D O I：

10.1038/sj.ejhg.5200324

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 an 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.

引用

收藏

页码：499 / 504

页数：6

相关论文

共 13 条

[1]

DIB C, 1996, NATURE, V380, pA54

[2] A GENE RESPONSIBLE FOR CAVERNOUS MALFORMATIONS OF THE BRAIN MAPS TO CHROMOSOME 7Q [J].

DUBOVSKY, J ;

ZABRAMSKI, JM ;

KURTH, J ;

SPETZLER, RF ;

RICH, SS ;

ORR, HT ;

WEBER, JL .

HUMAN MOLECULAR GENETICS, 1995, 4 (03) :453-458

[3] Familial cerebral cavernous angioma: A gene localized to a 15-cM interval on chromosome 7q [J].

GilNagel, A ;

Dubovsky, J ;

Wilcox, KJ ;

Stewart, JM ;

Anderson, VE ;

Leppik, IE ;

Orr, HT ;

Johnson, EW ;

Weber, JL ;

Rich, SS .

ANNALS OF NEUROLOGY, 1996, 39 (06) :807-810

[4] A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans [J].

Gunel, M ;

Awad, IA ;

Finberg, K ;

Anson, JA ;

Steinberg, GR ;

Batjer, PH ;

Kopitnik, TA ;

Morrison, L ;

Giannotta, SL ;

NelsonWilliams, C ;

Lifton, RP .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (15) :946-951

[5] MAPPING A GENE CAUSING CEREBRAL CAVERNOUS MALFORMATION TO 7Q11.2-Q21 [J].

GUNEL, M ;

AWAD, IA ;

ANSON, J ;

LIFTON, RP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (14) :6620-6624

[6]

Gunel M, 1996, NEUROSURGERY, V38, P1265

[7] REFINED LOCALIZATION OF THE CEREBRAL CAVERNOUS MALFORMATION GENE (CCM1) TO A 4-CM INTERVAL OF CHROMOSOME 7Q CONTAINED IN A WELL-DEFINED YAC CONTIG [J].

JOHNSON, EW ;

IYER, LM ;

RICH, SS ;

ORR, HT ;

GILNAGEL, A ;

KURTH, JH ;

ZABRAMSKI, JM ;

MARCHUK, DA ;

WEISSENBACH, J ;

CLERICUZIO, CL ;

DAVIS, LE ;

HART, BL ;

GUSELLA, JF ;

KOSOFSKY, BE ;

LOUIS, DN ;

MORRISON, LA ;

GREEN, ED ;

WEBER, JL .

GENOME RESEARCH, 1995, 5 (04) :368-380

[8] Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families [J].

Labauge, P ;

Laberge, S ;

Brunereau, L ;

Levy, C ;

Tournier-Lasserve, E .

LANCET, 1998, 352 (9144) :1892-1897

[9] A LOCUS FOR CEREBRAL CAVERNOUS MALFORMATIONS MAPS TO CHROMOSOME 7Q IN 2 FAMILIES [J].

MARCHUK, DA ;

GALLIONE, CJ ;

MORRISON, LA ;

CLERICUZIO, CL ;

HART, BL ;

KOSOFSKY, BE ;

LOUIS, DN ;

GUSELLA, JF ;

DAVIS, LE ;

PRENGER, VL .

GENOMICS, 1995, 28 (02) :311-314

[10] Familial cavernous malformations in a large French kindred: Mapping of the gene to the CCM1 locus on chromosome 7q [J].

Notelet, L ;

Chapon, F ;

Khoury, S ;

Vahedi, K ;

Chodkiewicz, JP ;

Courtheoux, P ;

IbaZizen, M ;

Cabanis, EA ;

Lechevalier, B ;

TournierLasserve, E ;

Houtteville, JP .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1997, 63 (01) :40-45