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.
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 / S., Lyonnet; A., Bolino; A., Pelet; L., Abel; C., Nihoul Fekete; M. L., Briard; V., Mok Siu; H., Kaariainen; G., Martucciello; M., Lerone; A., Puliti; Yin, Luo; J., Weissenbach; Devoto, Marcella; A., Munnich; G., Romeo. - In: NATURE GENETICS. - ISSN 1061-4036. - 4:4(1993), pp. 346-350. [10.1038/ng0893-346]
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
DEVOTO, MARCELLA;
1993
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.