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

来源：

HUMAN GENETICS | 1995年 / 95卷 / 01期

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

页码：56 / 62

页数：7

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