A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10

被引：170

作者：

LYONNET, S

BOLINO, A

PELET, A

ABEL, L

NIHOULFEKETE, C

BRIARD, ML

MOKSIU, V

KAARIAINEN, H

MARTUCCIELLO, G

LERONE, M

PULITI, A

LUO, Y

WEISSENBACH, J

DEVOTO, M

MUNNICH, A

ROMEO, G

机构：

[1] IST GIANNINA GASLINI,SERV GENET MOLEC,I-16148 GENOA,ITALY

[2] IST GIANNINA GASLINI,SERV ORGAN CHEM,I-16148 GENOA,ITALY

[3] HOP LA PITIE SALPETRIERE,INSERM,U194,PARIS,FRANCE

[4] CHILDRENS HOSP WESTERN ONTARIO,CTR REG MED GENET,LONDON,ON,CANADA

[5] DEPT MED GENET,HELSINKI,FINLAND

[6] INST PASTEUR,CNRS,URA 1445,F-75724 PARIS 15,FRANCE

[7] GENETHUN,EVRY,FRANCE

[8] HOP ENFANTS MALAD,DEPT PEDIAT,INSERM,U12,F-75743 PARIS,FRANCE

[9] HOP ENFANTS MALAD,INSERM,UNITE RECH HANDICAPS GENE T ENFANT 12,F-75743 PARIS,FRANCE

来源：

NATURE GENETICS | 1993年 / 4卷 / 04期

关键词：

D O I：

10.1038/ng0893-346

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：346 / 350

页数：5

共 47 条

[1]

Angrist M., 1992, American Journal of Human Genetics, V51, pA359

[2]

BADNER JA, 1990, AM J HUM GENET, V46, P568

[3] WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE - EVIDENCE FOR PLEIOTROPIC EFFECTS OF A SINGLE DOMINANT GENE [J].