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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
Author(s) -
Newton R.,
Stanier P.,
Loughna S.,
Henderson D. J.,
Forbes S. A.,
Farrall M.,
Jensson O.,
Moore G. E.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04149.x
Subject(s) - genetics , genetic linkage , biology , x chromosome , linkage (software) , complete linkage , anencephaly , x linked recessive inheritance , haplotype , lod score , chromosome , gene , gene mapping , neural tube , allele , genotype , single nucleotide polymorphism , embryo
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.