Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis

Val C Sheffield; Mary Ella Pierpont; Darryl Nishimura; John S Beck; Trudy L Burns; Mary Anne Berg; Edwin M Stone; Shivanand R Patil; Ronald M Lauer

doi:10.1093/hmg/6.1.117

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Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis

Journal article

Open access

Peer reviewed

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis

Val C Sheffield, Mary Ella Pierpont, Darryl Nishimura, John S Beck, Trudy L Burns, Mary Anne Berg, Edwin M Stone, Shivanand R Patil and Ronald M Lauer

Human molecular genetics, Vol.6(1), pp.117-121

01/1997

DOI: 10.1093/hmg/6.1.117

PMID: 9002679

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Abstract

The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patterns of 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 DNA pooling 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 dominant with 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.

DNA

Genetic Predisposition to Disease

Pedigree

Humans

Female

Male

Chromosome Mapping

Endocardial Cushion Defects - genetics

Details

Title: Subtitle: Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis
Creators: Val C Sheffield - Department of Pediatrics, University of Iowa, Iowa City 52242, USA
Mary Ella Pierpont
Darryl Nishimura
John S Beck
Trudy L Burns
Mary Anne Berg
Edwin M Stone
Shivanand R Patil
Ronald M Lauer
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.6(1), pp.117-121
DOI: 10.1093/hmg/6.1.117
PMID: 9002679
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS HL42266 / NHLBI NIH HHS
Language: English
Date published: 01/1997
Academic Unit: Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980007502771

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