Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21

Hum Genet. 1994 Feb;93(2):103-8. doi: 10.1007/BF00210591.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 21*
  • DNA / analysis
  • Endocardial Cushion Defects / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid


  • DNA