Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

Abstract

Recent localization of the gene for von Recklinghausen neurofibromatosis (NF1) to chromosome 17 has led to studies to identify additional tightly linked probes that can be used in defining the primary genetic defect in NF1. We have examined and obtained blood for DNA linkage studies on over 250 individuals from 10 multigeneration neurofibromatosis families. We have analyzed 130 members in 7 families with the available chromosome 17 NF1 linked probes, pE51, D17S71, and D17Z1, as well as two probes generated from our own chromosome 17/19 enriched library (LDR92, LDR152A). Tight linkage was found between NF1 and the centromeric probe D17Z1 (theta = 0.04) and between NF1 and D17S71 (theta = 0.08). A definite recombinant was seen for the D17Z1 marker, which previously had not exhibited crossingover. Chromosome 17 DNA markers pE51, LDR92, and LDR152A gave slightly positive scores, which were not statistically significant.

• Authors: M A Pericak-Vance, L H Yamaoka, J M Vance, K Small, G O Rosenwasser, P C Gaskell Jr, W Y Hung, M J Alberts, C S Haynes, M C Speer
• Journal: Genomics (Genomics) Vol. 1 Issue 4 Pg. 349-52 (Dec 1987) ISSN: 0888-7543 [Print] United States
• PMID: 3130305 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Genetic Markers
• DNA

Topics

• Chromosomes, Human, Pair 17
• Crossing Over, Genetic
• DNA (analysis)
• Eye Neoplasms (genetics)
• Female
• Genetic Markers
• Hamartoma (genetics)
• Humans
• Lod Score
• Male
• Neurofibromatosis 1 (genetics)
• Pedigree
• Skin Neoplasms (genetics)