Abstract
The method of X-chromosome inactivation assessment with a modification of methylation-specific PCR, utilizing the polymorphism at the promoter of the human androgen receptor gene, is an elegant and rapid method in comparison to methods formerly used. It is applicable e.g. for the screening of transmission of mutations causing X-linked diseases in female family members of patients with an X-linked disease.
The article offers a brief summary of the inactivation process and description of this method, including its usage in different diseases. : X-chromosome inactivation, methylation specific PCR, CpG islands, X-linked diseases, primary immune deficiencies