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
Citation
R. Newton et al., 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, Clinical genetics, 45(5), 1994, pp. 241-249
Citations number
33
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
45
Issue
5
Year of publication
1994
Pages
241 - 249
Database
ISI
SICI code
0009-9163(1994)45:5<241:LAO6XL>2.0.ZU;2-A
Abstract
We report here the findings of a linkage analysis, involving numerous markers from the human X chromosome, in an attempt to localise a putat ive gene causing apparent X-linked spina bifida and anencephaly (SBA) in a large Icelandic pedigree. Two-point linkage analysis was performe d using markers from 62 informative loci in this family. Although smal l positive lod scores were found at a number of these loci, none reach ed the significance level for linkage. Haplotypes were extensively ana lysed and found to exclude linkage to the X chromosome.