Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.
نویسندگان
چکیده
منابع مشابه
Psychological aspects of von Recklinghausen neurofibromatosis (NF1)
Neurofibromatosis is a devasting autosomal dominant disease which is extremely variable in its symptomatology, intensity, and progression. There have been numerous reports published about the physical aspects of neurofibromatosis, while psychological issues have been given little attention so far. The present article presents a review of the current knowledge concerning psychological aspects of...
متن کاملGene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eve...
متن کاملLinkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17.
Several recent studies indicate that the von Recklinghausen neurofibromatosis (NF1) gene is located near the centromere of chromosome 17 in some families. However, variable expressivity and a very high mutation rate suggest that defects at several different loci could result in phenotypes categorized as NF1. In order to assess this possibility and to map the NF1 gene more precisely, we have use...
متن کاملVon Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.
For genetic linkage purposes, a subject at risk for Von Recklinghausen neurofibromatosis (VRNF) is one who has a first degree relative with independently documented VRNF. The presence of one or more of the designated criteria establishes the phenotypic diagnosis of VRNF in a subject at risk regardless of age. The absence of all of these criteria excludes the phenotypic diagnosis for all at risk...
متن کاملLinkage analysis of neurofibromatosis (von Recklinghausen disease).
Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1990
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.87.18.7255