A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
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.
Lyonnet
S
S
Départment de Pédiatrie, l'Enfant INSERM U-12 Hôpital des Enfants-Malades, Paris, France.
Bolino
A
A
Pelet
A
A
Abel
L
L
Nihoul-Fékété
C
C
Briard
M L
ML
Mok-Siu
V
V
Kaariainen
H
H
Martucciello
G
G
Lerone
M
M
Puliti
A
A
Luo
Y
Y
Weissenbach
J
J
Devoto
M
M
Munnich
A
A
Romeo
G
G
D001483:Base Sequence; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004276:DNA, Satellite / Q000235:genetics; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
D004276:DNA, Satellite; D009838:Oligodeoxyribonucleotides