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PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma
- Source :
- Neurogenetics. 2(3)
- Publication Year :
- 1999
-
Abstract
- Paragangliomas (glomus tumors) are slowly growing, mostly benign tumors of the parasympathetic ganglia which most frequently occur in the head and neck region. Between 10% and 50% of cases are familial and follow an autosomal dominant mode of inheritance. The trait is maternally imprinted and exclusively transmitted through the paternal line. To date, two loci have been implicated in this disorder: one at 11q23 (PGL1), the other one at 11q13 (PGL2). We have analyzed a large German family with hereditary paraganglioma, but no evidence of maternal imprinting. By linkage analysis with markers flanking both PGL1 and PGL2, we demonstrate that the trait does not segregate with either of the loci at 11q. Our findings show that a third locus, PGL3, can be involved in hereditary paraganglioma.
- Subjects :
- Genetic Markers
Male
Genetic Linkage
Locus (genetics)
Biology
Paraganglioma
Cellular and Molecular Neuroscience
Genomic Imprinting
Genetic linkage
Peripheral Nervous System Neoplasms
Germany
Genetics
medicine
Humans
Genetics (clinical)
Aged
DNA Primers
Family Health
Hereditary Paraganglioma
Chromosomes, Human, Pair 11
Ganglia, Parasympathetic
Middle Aged
medicine.disease
Human genetics
Glomus tumor
Pedigree
Genetic marker
Head and Neck Neoplasms
Female
Genomic imprinting
Subjects
Details
- ISSN :
- 13646745
- Volume :
- 2
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Neurogenetics
- Accession number :
- edsair.doi.dedup.....278ccf9d14a47a993a3c8fb3586fc78d