Journal article
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21
Human genetics, Vol.93(2), pp.103-108
02/1994
DOI: 10.1007/BF00210591
PMID: 8112730
Abstract
The association between trisomy 21 and a high incidence of atrioventricular canal defects (AVCDs) indicates that a locus on chromosome 21 is involved in this congenital heart defect. We have investigated whether a genetic locus on chromosome 21 is also involved in familial nonsyndromic AVCDs. Short tandem repeat polymorphisms (STRPs) from chromosome 21 were used for linkage analysis of a family having multiple members affected with AVCDs. In this family, the gene for AVCDs is transmitted as an autosomal dominant with incomplete penetrance. The affected family members are nonsyndromic and have normal karyotypes. Two-point and multipoint linkage analyses produced significantly negative LOD scores for all informative markers. A comparison of the overlapping exclusion distances obtained for each marker at LOD equal -2.0 with the 1000:1 consensus genetic map of the markers, excludes chromosome 21 as the genetic location for AVCDs in this family. The exclusion of chromosome 21 indicates that another gene, not located on chromosome 21, is involved in atrioventricular canal defect formation.
Details
- Title: Subtitle
- Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21
- Creators
- Anthony J Cousineau - Department of Pediatrics, University of Iowa, Iowa City 52242Ronald M LauerMary Ella PierpontTrudy L BurnsRobert H ArdingerShivanand R PatilVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Human genetics, Vol.93(2), pp.103-108
- Publisher
- Germany
- DOI
- 10.1007/BF00210591
- PMID
- 8112730
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- Grant note
- HG00457 / NHGRI NIH HHS HL42266 / NHLBI NIH HHS HL07413 / NHLBI NIH HHS
- Language
- English
- Date published
- 02/1994
- Academic Unit
- Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Medical Genetics and Genomics; Fraternal Order of Eagles Diabetes Research Center; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065493602771
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