title: Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.
abstract: Various polymorphic markers with a random distribution along the X chromosome were used in a linkage analysis performed on a family with apparently X-linked recessive inheritance of neural tube defects (NTD). The lod score values were used to generate an exclusion map of the X chromosome; this showed that the responsible gene was probably not located in the middle part of Xp or in the distal region of Xq. A further refining of these results was achieved by haplotype analysis, which indicated that the gene for X-linked NTD was located either within Xp21.1-pter, distal from the DMD locus, or in the region Xq12-q24 between DXS106 and DXS424. Multipoint linkage analysis revealed that the likelihood for gene location is highest for the region on Xp. The region Xq26-q28, which has syntenic homology with the segment of the murine X chromosome carrying the locus for 'bent tail' (Bn), a mouse model for X-linked NTD, is excluded as the location for the gene underlying X-linked NTD in the present family. Thus, the human homologue of the Bn gene and the present defective gene are not identical, suggesting that more than one gene on the X chromosome plays a role in the development of the neural tube.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: F A
authors.initials: FA
authors.lastname: Hol
authors.forename: M P
authors.initials: MP
authors.lastname: Geurds
authors.forename: O
authors.initials: O
authors.lastname: Jensson
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
authors.forename: R
authors.initials: R
authors.lastname: Newton
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007055:Iceland; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome