Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p
- Universita Tor Vergata, Rome (Italy); and others
Atrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down`s syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter{r_arrow}q12 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL-D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion. 25 refs., 3 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105215
- Journal Information:
- American Journal of Medical Genetics, Vol. 57, Issue 3; Other Information: PBD: 3 Jul 1995
- Country of Publication:
- United States
- Language:
- English
Similar Records
A gene defect causing a novel progressive epilepsy with mental retardation, EPMR, maps to chromosome 8p
A gene for autosomal dominant hearing loss on the short arm of chromosome 1
Related Subjects
BASIC STUDIES
HUMAN CHROMOSOME 8
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
PATIENTS
CARDIOVASCULAR DISEASES
DOWNS SYNDROME
HEREDITARY DISEASES
GENES
HEART
CONGENITAL MALFORMATIONS
HUMAN CHROMOSOME 21
GENETICS
DOMINANT MUTATIONS
STATISTICS
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
COMPUTER CODES