DNA linkage analysis in Von Recklinghausen neurofibromatosis.
نویسندگان
چکیده
منابع مشابه
Linkage 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...
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 British and Indian families with Von Recklinghausen neurofibromatosis.
Linkage analysis has been undertaken in two British and three South African Indian families with Von Recklinghausen neurofibromatosis. Eleven polymorphic DNA probes were studied, including both random DNA sequences and candidate oncogenes. Although no evidence for linkage of these probes to the disease was detected, substantial exclusion regions were established on six of the chromosomes studied.
متن کاملLinkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.
Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders i...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1987
ISSN: 1468-6244
DOI: 10.1136/jmg.24.9.529