FINE MAPPING OF A PUTATIVELY IMPRINTED GENE FOR FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS TO CHROMOSOME 11Q13.1 - EVIDENCE FOR GENETIC-HETEROGENEITY

被引:113
作者
MARIMAN, ECM [1 ]
VANBEERSUM, SEC [1 ]
CREMERS, CWRJ [1 ]
STRUYCKEN, PM [1 ]
ROPERS, HH [1 ]
机构
[1] UNIV NIJMEGEN HOSP,DEPT OTORHINOLARYNGOL,6500 HB NIJMEGEN,NETHERLANDS
关键词
D O I
10.1007/BF00225075
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Autosomal, dominantly inherited, non-chromaffin paragangliomas are tumors of the head and neck region occurring with a frequency of 1:30 000. Genomic imprinting probably influences the expression of the disorder, because tumor development is limited to individuals who have inherited the trait from their father. By linkage analysis and haplotyping of a single large family in which the pattern of inheritance is consistent with genomic imprinting, we have mapped the gene to a 5 cM region of chromosome 11q13.1 between D11S956 and PYGM. A maximum lod score of 7.62 at Theta = 0.0 was obtained for D11S480. This interval does not overlap with a recently assigned locus for glomus tumors in other families: 11q22.3-q23.3. Furthermore, analysis of a second family showing the imprinting phenomenon resulted in the exclusion of the 5 cM area as the location of the disease gene, whereas an indication for linkage was obtained (Z = +2.65) with markers from the distal locus. These observations argue for the presence of two distinct imprinted genes for glomus tumors on 11q. A model for tumor initiation and progression is presented based on all available information.
引用
收藏
页码:56 / 62
页数:7
相关论文
共 19 条
[1]  
BLEKER RJTM, 1986, NETH J SURG, V38, P76
[2]   ALLELOTYPE OF HEAD AND NECK PARAGANGLIOMAS - ALLELIC IMBALANCE IS CONFINED TO THE LONG ARM OF CHROMOSOME-II, THE SITE OF THE PREDISPOSING LOCUS PGL [J].
DEVILEE, P ;
VANSCHOTHORST, EM ;
BARDOEL, AFJ ;
BONSING, B ;
KUIPERSDIJKSHOORN, N ;
JAMES, MR ;
FLEUREN, G ;
VANDERMEY, AGL ;
CORNELISSE, CJ .
GENES CHROMOSOMES & CANCER, 1994, 11 (02) :71-78
[3]  
FUJIMORI M, 1992, AM J HUM GENET, V50, P399
[4]   CHROMOSOMAL LOCALIZATION OF THE HUMAN CILIARY NEUROTROPHIC FACTOR GENE (CNTF) TO 11Q12 BY FLUORESCENCE INSITU HYBRIDIZATION [J].
GIOVANNINI, M ;
ROMO, AJ ;
EVANS, GA .
CYTOGENETICS AND CELL GENETICS, 1993, 63 (01) :62-&
[5]   A GENE SUBJECT TO GENOMIC IMPRINTING AND RESPONSIBLE FOR HEREDITARY PARAGANGLIOMAS MAPS TO CHROMOSOME 11Q23-QTER [J].
HEUTINK, P ;
VANDERMEY, AGL ;
SANDKUIJL, LA ;
VANGILS, APG ;
BARDOEL, A ;
BREEDVELD, GJ ;
VANVLIET, M ;
VANOMMEN, GJB ;
CORNELISSE, CJ ;
OOSTRA, BA ;
WEBER, JL ;
DEVILEE, P .
HUMAN MOLECULAR GENETICS, 1992, 1 (01) :7-10
[6]  
Heutink Peter, 1994, European Journal of Human Genetics, V2, P148
[7]  
KNUDSON AG, 1986, ANNU REV GENET, V20, P231
[8]  
LATHROP GM, 1985, AM J HUM GENET, V37, P482
[9]   A MICROSATELLITE-BASED INDEX MAP OF HUMAN CHROMOSOME-11 [J].
LITT, M ;
KRAMER, P ;
HAUGE, XY ;
WEBER, JL ;
WANG, Z ;
WILKIE, PJ ;
HOLT, MS ;
MISHRA, S ;
DONISKELLER, H ;
WARNICH, L ;
RETIEF, AE ;
JONES, C ;
WEISSENBACH, J .
HUMAN MOLECULAR GENETICS, 1993, 2 (07) :909-913
[10]   ANALYSIS OF A 2ND FAMILY WITH HEREDITARY NONCHROMAFFIN PARAGANGLIOMAS LOCATES THE UNDERLYING GENE AT THE PROXIMAL REGION OF CHROMOSOME-11Q [J].
MARIMAN, ECM ;
VANBEERSUM, SEC ;
CREMERS, CWRJ ;
VANBAARS, FM ;
ROPERS, HH .
HUMAN GENETICS, 1993, 91 (04) :357-361