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

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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 a...

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Bibliographic Details
Published in:Clinical Genetics
Main Authors: Newton, R, Stanier, P, Loughna, S, Henderson, D J, Forbes, S A, Farrall, M, Jensson, O, Moore, G E
Other Authors: Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, London, UK.
Format: Article in Journal/Newspaper
Language:English
Published: Munksgaard. 2011
Subjects:
Adult
Base Sequence
Chromosome Mapping
Female
Genetic Linkage
Haplotypes
Humans
Iceland
Male
Middle Aged
Molecular Sequence Data
Neural Tube Defects
Pedigree
Polymerase Chain Reaction
X Chromosome
Online Access:http://hdl.handle.net/2336/122713
https://doi.org/10.1111/j.1399-0004.1994.tb04149.x
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Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.

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