Progress towards identifying the neurofibromatosis (NF1) gene.
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder of humans. Linkage analysis has recently mapped the NF1 gene to the proximal long arm of chromosome 17. The identification of two NF1 patients with balanced translocations has now allowed the location of the gene to be narrowed to a few hundred kilobases of chromosome band 17q11.2, using a combination of somatic cell hybrid technology, linking clones and pulsed field gel electrophoresis.
Collins
F S
FS
O'Connell
P
P
Ponder
B A
BA
Seizinger
B R
BR
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005799:Genes, Dominant; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*