DNA deletion associated with hereditary neuropathy with liability to pressure palsies

TL;DR: In pathological study of biopsied sural nerve, thickened myelin sheath was observed in some myelinated fibers in patients with CMT 1A duplication, and the probe pVAW4O9R3a was more informative than PMP-22 cDNA and SF85 for detecting CMT1A duplication.

TL;DR: It has been shown the 17p11.2 chromosome region duplication/deletion association with CMT1A and HNPP clinical phenotypes which may be used in differential diagnosis of this type of CMT polyneuropathy.

TL;DR: In this article, a technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, where DNA fragments are purified from agarose gels directly by ethanol precipitation and are then denatured and labeled with the large fragment of DNA polymerase I, using random oligonucleotides as primers.

TL;DR: The use of fluorescence in situ hybridization for chromosome classification and detection of chromosome aberrations is described and chromosomes in human-hamster hybrid cell lines were intensely and uniformly stained in metaphase spreads and interphase nuclei when human genomic DNA was used as a probe.

TL;DR: It is demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus.

TL;DR: The TBR gene is established as the NF1 gene and a description of a major segment of the gene is provided, indicating base pair changes in the gene.