Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

Nat Genet. 1993 Dec;5(4):403-7. doi: 10.1038/ng1293-403.

Abstract

Ambiguous abdominal situs, asplenia/polysplenia and severe cardiac malformations characterize heterotaxy in humans. These anomalies result from the inability of the developing embryo to establish normal left-right asymmetry. We have studied an interesting family in which the heterotaxy phenotype segregates as an X-linked recessive trait. In order to map the heterotaxy locus (HTX), we have analysed 39 family members using highly-polymorphic microsatellite markers from the X chromosome. One of these markers, DXS994, shows no recombination with the disease locus in 20 informative meioses. Linkage analysis results in a maximum lod score of 6.37. Current genetic and physical mapping data assign the order of loci in Xq24-q27.1 as cen-DXS1001-(DXS994, HTX)-DXS984-tel. These results establish the first mapping assignment of situs abnormalities in humans.

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Family
  • Genetic Linkage*
  • Humans
  • Infant
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Genetic
  • Sex Chromosome Aberrations / genetics
  • Situs Inversus / genetics*
  • X Chromosome*