title: A study of X chromosome activity in two incontinentia pigmenti families with probable linkage to Xq28.
abstract: Linkage analysis was carried out in two British families with incontinentia pigmenti (IP). Both showed exclusion at several markers in Xp and proximal Xq and showed probable linkage to the DXS52 and F8C loci in Xq28. This suggests that in these families the disease locus is IP2. Using a method based on the androgen receptor gene, and confirming the results where possible at the PGK-1 and DXS255 loci, it was shown that in affected females the maternally inherited X chromosome, where it could be identified, is inactive in the majority of cells.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: A R
authors.initials: AR
authors.lastname: Curtis
authors.forename: S
authors.initials: S
authors.lastname: Lindsay
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: A J
authors.initials: AJ
authors.lastname: Clarke
authors.forename: S J
authors.initials: SJ
authors.lastname: Landy
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D002874:Chromosome Mapping; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008745:Methylation; D008875:Middle Aged; D009035:Mothers; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012737:Sex Factors; D014960:X Chromosome