Article
Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe.
Blood - 15 Jun 1991
Goodship J, Carter J, Espanol T, Boyd Y, Malcolm S, Levinsky R J
Abstract excerpt
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 in granulocytes, lymphocytes, and monocytes. We have used the probe M27 beta, which detects both a variable number tandem repeat polymorphism and methylation differences...
Topics
- Alleles
- DNA Probes
- Dosage Compensation, Genetic
- Female
- Genetic Carrier Screening
- Humans
- Male
- Methylation
- Nucleic Acid Hybridization
- Pedigree
- Wiskott-Aldrich Syndrome
