Jan 1, 1997

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

Human Molecular Genetics
V C SheffieldR M Lauer


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.

  • References
  • Citations43


  • We're still populating references for this paper, please check back later.
  • References
  • Citations43

Mentioned in this Paper

Chromosomes, Human, Pair 1
Entire Atrioventricular Canal
Cancer-Predisposing Gene
Persistent Common Atrioventricular Canal
Congenital Heart Disease
Congenital Disorders
Genomic Screening
Cognitive Complexity
Atrioventricular CANAL Defect

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.