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dc.contributor.authorHol, F A
dc.contributor.authorGeurds, M P
dc.contributor.authorJensson, O
dc.contributor.authorHamel, B C
dc.contributor.authorMoore, G E
dc.contributor.authorNewton, R
dc.contributor.authorMariman, E C
dc.date.accessioned2011-02-24T09:40:41Z
dc.date.available2011-02-24T09:40:41Z
dc.date.issued1994-04
dc.date.submitted2011-02-24
dc.identifier.citationHum. Genet. 1994, 93(4):452-6en
dc.identifier.issn0340-6717
dc.identifier.pmid8168816
dc.identifier.doi10.1007/BF00201674
dc.identifier.urihttp://hdl.handle.net/2336/122786
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractVarious 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.
dc.language.isoenen
dc.relation.urlhttp://dx.doi.org/10.1007/BF00201674en
dc.subject.meshChromosome Mappingen
dc.subject.meshFemaleen
dc.subject.meshGenetic Linkageen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshMaleen
dc.subject.meshNeural Tube Defectsen
dc.subject.meshPedigreeen
dc.subject.meshX Chromosomeen
dc.titleExclusion mapping of the gene for X-linked neural tube defects in an Icelandic familyen
dc.typeArticleen
dc.contributor.departmentDepartment of Human Genetics, University Hospital Nijmegen, The Netherlands.en
dc.identifier.journalHuman geneticsen
html.description.abstractVarious 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.


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