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Titolo:
IDENTIFICATION OF A COMPLEX CONGENITAL HEART DEFECT SUSCEPTIBILITY LOCUS BY USING DNA POOLING AND SHARED SEGMENT ANALYSIS
Autore:
SHEFFIELD VC; PIERPONT ME; NISHIMURA D; BEEK JS; BURNS TL; BERG MA; STONE EM; PATIL SR; LAUER RM;
Indirizzi:
UNIV IOWA,DEPT PEDIAT IOWA CITY IA 52242 UNIV IOWA,DEPT INTERNAL MED IOWA CITY IA 52242 UNIV IOWA,DEPT PREVENT MED IOWA CITY IA 52242 UNIV IOWA,DEPT OPHTHALMOL IOWA CITY IA 52242 UNIV MINNESOTA,DEPT PEDIAT MINNEAPOLIS MN 55455
Titolo Testata:
Human molecular genetics
fascicolo: 1, volume: 6, anno: 1997,
pagine: 117 - 121
SICI:
0964-6906(1997)6:1<117:IOACCH>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOWN-SYNDROME; HUMAN GENOME; LINKAGE; MOUSE; GENE; CHROMOSOME-21; 8P-SYNDROME; EXCLUSION; MAPS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
V.C. Sheffield et al., "IDENTIFICATION OF A COMPLEX CONGENITAL HEART DEFECT SUSCEPTIBILITY LOCUS BY USING DNA POOLING AND SHARED SEGMENT ANALYSIS", Human molecular genetics, 6(1), 1997, pp. 117-121

Abstract

The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patternsof these disorders, Atrioventricular canal defects (AVCDs) are most commonly associated with Down syndrome, although non-syndromic cases also occur. Non-syndromic AVCDs have been attributed to multifactorial inheritance, However, the occurrence of a few kindreds with multiple affected individuals has suggested that a major genetic locus can account for the disorder in some families, We have used a combination of DNApooling and shared segment analysis to perform a high density screen of the entire autosomal human genome in an extended kindred, In so doing, we have identified a genetic locus on chromosome 1 shared by all affected individuals, Our data demonstrate the existence of a congenital heart defect susceptibility gene, inherited as an autosomal dominantwith incomplete penetrance, involved in AVCD, Furthermore, our data demonstrate the power of using key isolated kindreds in combination with high density genomic screens to identify loci involved in complex disorders such as congenital heart defects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 04:22:48