Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene

This study reports the results of a linkage analysis in nine families with members who had neurofibromatosis type 1 (NF1), using five restriction fragment length polymorphisms (RFLPs) tightly linked to the NF1 locus. The purpose of this analysis was to determine whether the at-risk individuals were...

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Bibliographic Details
Published in:	Child's nervous system Vol. 9; no. 3; pp. 147 - 149
Main Authors:	VIVARELLI, R, BARTALANI, G, BERARDI, A, CALISTRI, L, BALESTRI, P, FOIS, A
Format:	Journal Article
Language:	English
Published:	Berlin Springer 01-06-1993
Subjects:	Adult Biological and medical sciences Child Child, Preschool Chromosome Mapping Female Genes, Neurofibromatosis 1 - genetics Genetic Carrier Screening Genetic Linkage - genetics Genetic Markers - genetics Humans Male Medical sciences Mutation Neurofibromatosis 1 - diagnosis Neurofibromatosis 1 - genetics Neurology Pedigree Polymorphism, Restriction Fragment Length Risk Factors Tumors of the nervous system. Phacomatoses Human Nervous system diseases Linkage Restriction fragment length polymorphism Phacomatosis Family study Exploration Tumor Genetic character Diagnosis Neurofibromatosis Recklinghausen
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Summary:	This study reports the results of a linkage analysis in nine families with members who had neurofibromatosis type 1 (NF1), using five restriction fragment length polymorphisms (RFLPs) tightly linked to the NF1 locus. The purpose of this analysis was to determine whether the at-risk individuals were carrying the NF1 allele and whether the nine families would be informative for prenatal testing. The families included 25 patients with NF1, 3 individuals at risk for NF1, and 11 unaffected subjects, with a total of 39 family members and 12 matings. In 6 matings two or more flanking probes were informative, in 3 matings only one probe was informative, and in the other 3 no probe was informative. DNA linkage analysis showed with more than 98% probability that the 3 at-risk individuals did not carry the NF1 mutation. No recombination events were observed. In 6 families it will be possible to do a DNA prenatal diagnosis if this type of test is requested. The NF1 gene has been identified and direct testing for the NF1 mutation is now possible. Linkage testing, however, will probably remain useful and complementary to direct analysis of the NF1 gene to reveal intragenic recombination events and for diagnosis in families in which the detection of mutation is difficult.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0256-7040 1433-0350
DOI:	10.1007/BF00272264