ABSTRACT
Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X-autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.
Subject(s)
Genes, Dominant , Genetic Linkage , Incontinentia Pigmenti/genetics , Pigmentation Disorders/genetics , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , X Chromosome , Chromosome Mapping , Humans , Pedigree , Translocation, GeneticABSTRACT
Linkage studies have been carried out with 28 X-linked polymorphic probes to try to locate the gene for X-linked lymphoproliferative disease (XLP). DNA from three families has been analysed, including three affected boys among 21 family members. None of the probes tested has been found to be linked to XLP. However, the data are recorded for the use of other workers on this rare disease.