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Molecular detection of altered X‐inactivation patterns in the diagnosis of genetic disease
Author(s) -
Malcolm S.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799609
Subject(s) - x inactivation , x chromosome , genetics , somatic cell , human genetics , biology , dna , dna methylation , chromosome , genetic disorder , disease , gene , medicine , gene expression
Summary It is widely assumed that when a female carrier of a genetic disorder exhibits clinical signs of the disorder it is due to chance non‐random X‐inactivation in particular tissues. Recently molecular methods have become available for the analysis of X‐chromosome inactivation status. These are based either on the methylation patterns of DNA from the active and inactive chromosomes or on the rescue of active X chromosomes in somatic cell hybrids. As a consequence of the molecular studies, it has become obvious that there are some special cases of non‐random X‐inactivation patterns. These include females carrying X‐linked immunodeficiencies and, sometimes, one of a pair of identical female twins.