title: 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.
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.
authors.affiliation: Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, London, UK.
authors.forename: R
authors.initials: R
authors.lastname: Newton
authors.forename: P
authors.initials: P
authors.lastname: Stanier
authors.forename: S
authors.initials: S
authors.lastname: Loughna
authors.forename: D J
authors.initials: DJ
authors.lastname: Henderson
authors.forename: S A
authors.initials: SA
authors.lastname: Forbes
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: O
authors.initials: O
authors.lastname: Jensson
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
mesh_terms: D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007055:Iceland; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009436:Neural Tube Defects / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014960:X Chromosome