Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family
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CitationHum. Genet. 1994, 93(4):452-6
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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- 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.
- Authors: Newton R, Stanier P, Loughna S, Henderson DJ, Forbes SA, Farrall M, Jensson O, Moore GE
- Issue date: 1994 May
- A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.
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- Issue date: 2000 Jul 1
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- Issue date: 1995 Mar
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- Authors: Stanier P, Henson JN, Eddleston J, Moore GE, Copp AJ
- Issue date: 1995 Apr 10
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- Authors: Oberlé I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL
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