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Linkage studies in peripheral neurofibromatosis
M A Pericak-Vance1, L H Yamaoka, J M Vance
1Department of Medicine Duke University Medical Center, Durham, North Carolina 27710.
Journal of Medical Genetics
|September 1, 1987
Summary
Researchers investigated the genetic basis of peripheral neurofibromatosis (NF), a common genetic disorder. Linkage studies using recombinant DNA and restriction fragment length polymorphisms (RFLPs) in large families did not identify the chromosomal location of NF.
Area of Science:
- Genetics
- Medical Genetics
- Molecular Biology
Background:
- Peripheral neurofibromatosis (NF) is a prevalent genetic disorder with an unknown chromosomal location.
- Genetic heterogeneity and other factors influencing NF remain poorly understood.
Purpose of the Study:
- To identify the chromosomal location of peripheral neurofibromatosis (NF) through linkage analysis.
- To investigate potential genetic heterogeneity in NF using large pedigrees.
Main Methods:
- Ascertainment and sampling of large, multi-generation families affected with NF.
- Utilized recombinant DNA technology and restriction fragment length polymorphisms (RFLPs) for genetic linkage studies.
- Analyzed linkage data using lod scores (Z) and recombination fractions (theta).
Main Results:
- No significant linkage (Z >= 3.00) was found between NF and the tested RFLP markers (C3, ApoC2, pBam34, HAUP, pE40-1, Hp, LDR92, LDR111).
- Significant exclusion of genomic regions surrounding the marker loci was achieved (Z >= -2.00).
- The maximum lod score (Z) was 0.399 for the Hp marker at a recombination fraction (theta) of 0.20.
Conclusions:
- The tested RFLPs and genomic regions are unlikely to contain the NF gene.
- Further screening of additional RFLPs and families is necessary to determine the chromosomal location of NF.
- The study contributes to excluding potential chromosomal regions, narrowing the search for the NF gene locus.