S. Lyonnet, A. Bolino, A. Pelet, L. Abel, C. Nihoul-Fékété, M. L. Briard, V. Mok-Siu, H. Kaariainen, G. Martucciello, M. Lerone, A. Puliti, Yin Luo, J. Weissenbach, M. Devoto, A. Munnich, G. Romeo
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引用次数: 191
Abstract
Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2–q21.2) in a patient with total colonic aganglionosis, and of a high–density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non–syndromic long–segment and short–segment HSCR families. Multipoint linkage analysis indicated that the most likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting that a dominant gene for HSCR maps to 10q11.2, a region to which other neural crest defects have been mapped.
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