A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-08

AUTHORS

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

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. More... »

PAGES

346-350

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0893-346

DOI

http://dx.doi.org/10.1038/ng0893-346

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1012867739

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8401580


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28 schema:description 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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