Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects

Clin Genet. 1994 May;45(5):241-9. doi: 10.1111/j.1399-0004.1994.tb04149.x.

Abstract

We report here the findings of a linkage analysis, involving numerous markers from the human X chromosome, in an attempt to localise a putative gene causing apparent X-linked spina bifida and anencephaly (SBA) in a large Icelandic pedigree. Two-point linkage analysis was performed using markers from 62 informative loci in this family. Although small positive lod scores were found at a number of these loci, none reached the significance level for linkage. Haplotypes were extensively analysed and found to exclude linkage to the X chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Mapping
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Iceland
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Neural Tube Defects / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • X Chromosome*