Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe.

摘要: Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder with no clinical or immunologic abnormalities in carrier females. The defective gene has been localized to proximal Xp. Carrier females have nonrandom use of the X chromosome granulocytes, lymphocytes, and monocytes. We used probe M27 beta, which detects both a variable number tandem repeat polymorphism methylation differences between active inactive chromosome, investigation families referred for genetic counseling. beta locus DXS255, tightly linked WAS. As that X-inactivation patterns also disease locus, it possible assign phase where this could not be done by conventional probes. mothers four isolated male cases had chromosome. A new mutation was identified one family two affected males.