@article{744d4996a08848179898ae53e0dc28b4,
title = "DNA duplication associated with Charcot-Marie-Tooth disease type 1A",
abstract = "Charcot-Marie-Tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by two-color fluorescence in situ hybridization. Pulsed-field gel electrophoresis of genomic DNA from patients of different ethnic origins showed a novel Sacll fragment of 500 kb associated with CMT1A. A severely affected CMT1A offspring from a mating between two affected individuals was demonstrated to have this duplication present on each chromosome 17. We have 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.",
author = "Lupski, {James R.} and {de Oca-Luna}, {Roberto Montes} and Susan Slaugenhaupt and Liu Pentao and Vito Guzzetta and Trask, {Barbara J.} and Odila Saucedo-Cardenas and Barker, {David F.} and Killian, {James M.} and Garcia, {Carlos A.} and Aravinda Chakravarti and Patel, {Pragna I.}",
note = "Funding Information: We are grateful to the CMT patients and families for their continued cooperation, and the Muscular Dystrophy Association (MDA) clinics in New Orleans, Baton Rouge, and Lafayette, Louisiana, for clinical evaluation, treatment, and patient specimen collection. We thank Drs. R. Malamut and G. Parry for electrophysiological evaluation of CMTIA families and Dr. F. Axelrod (New York University Medical Center) for clinical evaluation and collection of HOU76. The excellent technical assistance of R. Wright, Zhang Heju, S. Davis, V. Holliday, and H. Massa, graphics assistance by R. Ross, and manuscript preparation by L. Hayway are gratefully acknowledged. We thank all investigators who provided probes. We gratefully appreciate the critical review of the manuscript by Drs. A. Beaudet, H. Bellen, J. Belmont, D. Ledbetter, D. Nelson, and H. Zoghbi. Work of B. J. T. at Lawrence Livermore National Laboratories was performed under US Department of Energy contract number W-7405ENG-48 with support from US Public Health Service grant HG-00256-01. This research was also supported by an MDA Task Force on Genetics grant, a Texas Higher Education Advanced Technology Program grant, and NIH grants ROI NS27042 to J. R. L. and P. I. P. and HG 00344 to A. C., and by Baylor Mental Retardation Center grant HD 24064-02. R. M. is a recipient of a fellowship from the National Council of Science and Technology (CONACYT) of Mexico. V. G. is the recipient of an MDA postdoctoral fellowship. A. C. is a recipient of a Research Career Development Award from the NIH (HD 00774). J. R. L. acknowledges support from the Pew Scholars Program in Biomedical Sciences.",
year = "1991",
month = jul,
day = "26",
doi = "10.1016/0092-8674(91)90613-4",
language = "English (US)",
volume = "66",
pages = "219--232",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "2",
}