Document Detail


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.
MedLine Citation:
PMID:  8076409     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
R Newton; P Stanier; S Loughna; D J Henderson; S A Forbes; M Farrall; O Jensson; G E Moore
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  45     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-10-04     Completed Date:  1994-10-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  241-9     Citation Subset:  IM    
Affiliation:
Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Chromosome Mapping
Female
Haplotypes
Humans
Iceland
Linkage (Genetics)
Male
Middle Aged
Molecular Sequence Data
Neural Tube Defects / genetics*
Pedigree
Polymerase Chain Reaction
X Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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