Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population

被引:3
作者
Fang, LJ
Li, WT
Chalhoub, N
Feingold, J
Ortenberg, J
Thirion, JP [1 ]
机构
[1] Univ Sherbrooke, Fac Med, Dept Microbiol & Infectiol, Sherbrooke, PQ J1H 5N4, Canada
[2] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA
[3] Hop Necker Enfants Malad, INSERM 393, F-75015 Paris, France
[4] McGill Univ, Montreal Childrens Hosp, Dept Genet, Montreal, PQ H3H 1P3, Canada
来源
ANNALES DE GENETIQUE | 2002年 / 45卷 / 01期
关键词
neurofibromatosis type 1 (NF1); microsatellite; linkage disequilibrium; French Canadians; founder effect;
D O I
10.1016/S0003-3995(02)01105-X
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We genotyped 19 neurofibromatosis type 1 (NF1) families from French Canadians of the Quebec population with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Linkage analysis of the four microsatellite markers among the 19 NF1 families indicates that the four microsatellites are strongly linked with NF1 disease (LOD = 2.76-3.64). The four markers are associated (P = 0-0.077) except marker pair IVS26-2.3/IVS27AC33.1 (P = 0.18 or 0.17). However. perhaps due to the high mutation rate of the NF1 gene, no founder effect for NF1 was detected in the Quebec French Canadians. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.
引用
收藏
页码:39 / 44
页数:6
相关论文
共 42 条
[1]  
Bahuau M, 1996, AM J MED GENET, V66, P347, DOI 10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO
[2]  
2-L
[3]  
BOUCHARD G, 1990, HIST SOC/SOC HIST, V23, P325
[4]   THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY LOCUS MAPS TO THE REGION OF THE CARDIAC ALPHA-MYOSIN AND BETA-MYOSIN HEAVY-CHAIN GENES ON CHROMOSOME 14Q11.2-Q13 [J].
BRAIS, B ;
XIE, YG ;
SANSON, M ;
MORGAN, K ;
WEISSENBACH, J ;
KORCZYN, AD ;
BLUMEN, SC ;
FARDEAU, M ;
TOME, FMS ;
BOUCHARD, JP ;
ROULEAU, GA .
HUMAN MOLECULAR GENETICS, 1995, 4 (03) :429-434
[5]  
Carey JC, 1999, AM J MED GENET, V89, P7, DOI 10.1002/(SICI)1096-8628(19990326)89:1<7::AID-AJMG4>3.3.CO
[6]  
2-R
[7]  
Casaubon LK, 1996, AM J HUM GENET, V58, P28
[8]  
CHARBONNEAR H, 1987, BEGINNING 1800 HIST, V1
[9]  
DEBRAEKELEER M, 1993, NOUV REV FR HEMATOL, V35, P447
[10]   A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition [J].
Fang, LJ ;
Simard, MJ ;
Vidaud, D ;
Assouline, B ;
Lemieux, B ;
Vidaud, M ;
Chabot, B ;
Thirion, JP .
JOURNAL OF MOLECULAR BIOLOGY, 2001, 307 (05) :1261-1270