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The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization
Author(s) -
Harris Ann,
Lankester Shelley,
Haan Eric,
Beres Judith,
Hulten Maj,
Szollar Judit,
Soutter Linda,
Bobrow Martin
Publication year - 1988
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.1399-0004.1988.tb02607.x
Subject(s) - incontinentia pigmenti , genetics , genetic linkage , breakpoint , autosome , biology , x chromosome , chromosomal translocation , linkage (software) , gene , chromosome , restriction fragment length polymorphism , gene mapping , microbiology and biotechnology , genotype
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.